A44V (p.Ala44Val) variant of ATXN1 (Ataxin-1)
A44V (p.Ala44Val) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- cosmic curated COSV55220
- Ensembl rs1581692998
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.11
- AlphaMissense 0.17
- MetaLR 0.29
- MetaSVM -0.35
- CADD 24.00
- PolyPhen-2 0.52
- Population evidence available
- Structural context available