A121V (p.Ala121Val) variant of ATXN1 (Ataxin-1)
A121V (p.Ala121Val) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A121V (p.Ala121Val) variant details
- p.Ala121Val
- gnomAD rs1760880466
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.38
- CADD 24.10
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available