A107V (p.Ala107Val) variant of ATXN1 (Ataxin-1)
A107V (p.Ala107Val) 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 0.34 / 1. The record also includes structural context.
A107V (p.Ala107Val) variant details
- p.Ala107Val
- rs1333234060
- NCI-TCGA Cosmic COSV5520
- cosmic curated COSV55208
- Ensembl rs1333234060
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -0.86
- PolyPhen-2 0.04
- SIFT 0.01
- MutPred 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available