A121S (p.Ala121Ser) variant of ATXN1 (Ataxin-1)
A121S (p.Ala121Ser) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A121S (p.Ala121Ser) variant details
- p.Ala121Ser
- ExAC rs770179993
- gnomAD rs770179993
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.20
- CADD 18.90
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available