Individual skill

tooluniverse-variant-interpretation

Systematic clinical variant interpretation from raw variant calls to ACMG-classified recommendations with structural impact analysis. Aggregates evidence from ClinVar, gnomAD, CIViC, UniProt, and PDB across ACMG criteria. Produces pathogenicity scores (0-100), clinical recommendations, and treatment implications. Use when interpreting genetic variants, classifying variants of uncertain significance (VUS), performing ACMG variant classification, or translating variant calls to clinical actionability.

skills/bio/tooluniverse-variant-interpretation/SKILL.md

Source commit df378022e8b0764e5ee07df3e3a03e2fa7c7dd65

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Last checked

Nov 4, 2026

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