V40M (p.Val40Met) variant of ATXN1 (Ataxin-1)
V40M (p.Val40Met) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- ExAC rs761735732
- gnomAD rs761735732
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.05
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available