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tooluniverse-variant-functional-annotation

Functional annotation of protein variants — ProtVar structural/functional context, ClinVar clinical classifications, gnomAD population frequencies, CADD deleteriousness, ClinGen gene-disease validity, plus FAVOR one-call comprehensive GRCh38 annotation. Use for variant annotation pipelines, missense effect prediction, and protein-level variant interpretation with functional context.

Quality

87%

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SKILL.md
Quality
Evals
Security

Quality

Content

81%Weight 40%Scale 1-5

Reviews the quality of instructions and guidance provided to agents. Good implementation is clear, handles edge cases, and produces reliable results.

A dense, well-structured operational skill: concrete tool signatures, thresholds, fallback chains per phase, and a clear report template. Minor improvements possible: trim the pedagogical synthesis paragraph and generic boilerplate sections, and add complete example invocations for the ProtVar/ClinVar/ClinGen tools to match the one fully-worked FAVOR example.

DimensionReasoningScore

Conciseness

The bulk is high-value, non-obvious operational content (parameter formats like 'chrom-pos-ref-alt' hg38 without 'chr' prefix, CADD PHRED thresholds, REVEL ≥ 0.75, ClinVar star ratings, annotator strings), but minor padding exists: the pedagogical 'Synthesizing the four dimensions' paragraph re-explains reasoning Claude can derive, and the 'LOOK UP, DON'T GUESS' / 'COMPUTE, DON'T DESCRIBE' sections are generic boilerplate. Fits the 4 anchor ('efficient; minor instances of over-explanation that could be trimmed'), not 3, since the padding is incidental rather than pervasive.

4 / 5

Actionability

Concrete executable guidance throughout: exact tool names with parameter signatures ('ProtVar_map_variant takes hgvs, genomic, or protein_variant', 'gnomad_get_variant takes variant_id in the format chrom-pos-ref-alt'), specific annotator lists ('clinvar,gnomad3,sift,polyphen2,revel,alphamissense,cadd_exome'), and one complete example call ('FAVOR_annotate_variant(variant="19-44908822-C-T")'). Falls short of the 5 anchor because only FAVOR is given as a full copy-paste invocation — ProtVar, ClinVar, and ClinGen calls lack complete example invocations with arguments.

4 / 5

Workflow Clarity

A clearly sequenced Phase 0→5 pipeline with a workflow diagram, an explicit Phase-0 normalization checkpoint ('Resolve to canonical HGVS... confirm gene/transcript'), per-phase fallback chains as error-recovery loops ('ProtVar_map_variant fails → try with genomic notation', 'ClinVar unavailable → OpenCRAVAT clinvar annotator'), and a report template mandating a Data Gaps section. This matches the 5 anchor (clear sequence, feedback loops, structured checklist-like report); it exceeds 4 because failure handling is explicit for every phase rather than partially present.

5 / 5

Progressive Disclosure

No bundle files exist, so all ~230 lines are inline, but the body is cleanly sectioned (framework, key principles, phases, fallbacks, limitations) with appropriate operational density for a single file. The conceptual 'Pathogenicity Reasoning Framework' could arguably move to a reference file, which keeps this at the 4 anchor ('most content is appropriately placed; minor organization gaps') rather than 5 (which expects well-signaled one-level-deep references); it is above 3 because nothing is buried or duplicated.

4 / 5

Total

17

/

20

Passed

Description

88%Weight 40%Scale 1-5

Based on the skill's description, can an agent find and select it at the right time? Clear, specific descriptions lead to better discovery.

A strong, third-person description that comprehensively enumerates specific capabilities across five data sources plus a one-call fallback, with an explicit 'Use for' clause naming three concrete use cases. The only weaknesses are a few missing natural trigger synonyms and slight overlap risk with a sibling variant-interpretation skill.

DimensionReasoningScore

Specificity

The description lists multiple specific concrete capabilities — 'ProtVar structural/functional context, ClinVar clinical classifications, gnomAD population frequencies, CADD deleteriousness, ClinGen gene-disease validity, plus FAVOR one-call comprehensive GRCh38 annotation' — covering the entire annotation pipeline with no coverage gaps. It matches the 5 anchor ('lists multiple specific concrete actions; comprehensive coverage') rather than 4, which requires minor gaps.

5 / 5

Completeness

It explicitly answers both what ('Functional annotation of protein variants — ProtVar... ClinVar... gnomAD... CADD... ClinGen... FAVOR') and when ('Use for variant annotation pipelines, missense effect prediction, and protein-level variant interpretation with functional context') with concrete trigger phrases. This matches the 5 anchor exactly; it is above 4 because the 'when' clause is explicit and enumerates specific use cases rather than being vague.

5 / 5

Trigger Term Quality

Natural trigger phrases like 'variant annotation pipelines, missense effect prediction, and protein-level variant interpretation' give good keyword coverage, but common user phrasings such as 'pathogenic', 'is this variant deleterious', or explicit HGVS/rsID lookup terms are missing. Best fit is the 4 anchor ('good keyword coverage; a few natural terms missing'), not 5, which demands synonym- and extension-level completeness.

4 / 5

Distinctiveness Conflict Risk

The description carves a clear niche (protein-level functional evidence with named tools: ProtVar, gnomAD, CADD, ClinGen, FAVOR), but the phrase 'protein-level variant interpretation' carries minor overlap risk with the closely related 'tooluniverse-variant-interpretation' skill (full ACMG classification). Fits the 4 anchor ('mostly distinct; minor overlap risk with closely related skills'), not 5, since it does not name the boundary in the description itself.

4 / 5

Total

18

/

20

Passed

Validation

100%

Checks the skill against the spec for correct structure and formatting. All validation checks must pass before discovery and implementation can be scored.

Validation — 16 / 16 Passed

Validation for skill structure

No warnings or errors.

Repository

mims-harvard/ToolUniverse

Path

plugin/skills/tooluniverse-variant-functional-annotation/SKILL.md

Reviewed

Table of Contents

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