V118M (p.Val118Met) variant of ATXN1 (Ataxin-1)
V118M (p.Val118Met) in ATXN1 (Ataxin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V118M (p.Val118Met) variant details
- p.Val118Met
- rs1390386736
- NCI-TCGA Cosmic COSV5522
- NCI-TCGA Cosmic COSV9978
- cosmic curated COSV99787
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.30
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.09
- CADD 24.50
- PolyPhen-2 0.36
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available