A104V (p.Ala104Val) variant of ATXN1 (Ataxin-1)
A104V (p.Ala104Val) 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.
A104V (p.Ala104Val) variant details
- p.Ala104Val
- NCI-TCGA Cosmic COSV5520
- cosmic curated COSV55207
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available