A63V (p.Ala63Val) variant of ATXN1 (Ataxin-1)
A63V (p.Ala63Val) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- cosmic curated COSV55218
- ExAC rs775327970
- TOPMed rs775327970
- gnomAD rs775327970
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.04
- AlphaMissense 0.17
- MetaLR 0.10
- MetaSVM -0.93
- CADD 14.20
- PolyPhen-2 0.26
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available