Individual skill
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.
plugin/skills/tooluniverse-variant-functional-annotation/SKILL.md
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# Protein Variant Functional Annotation
Comprehensive functional annotation of protein variants by combining ProtVar structural/functional
context, ClinVar clinical classifications, gnomAD population frequencies, CADD deleteriousness
scoring, and ClinGen gene-disease validity.
**Differentiation from tooluniverse-variant-interpretation**: This skill focuses specifically on
**protein-level functional evidence** — structural mapping, residue context, protein domain impact,
and population allele frequencies. It does NOT produce full ACMG classifications or treatment
recommendations. Use `tooluniverse-variant-interpretation` for complete ACMG clinical classification.
## LOOK UP, DON'T GUESS
When uncertain about any scientific fact, SEARCH databases first (PubMed, UniProt, ChEMBL, ClinVar, etc.) rather than reasoning from memory. A database-verified answer is always more reliable than a guess.