S116Y (p.Ser116Tyr) variant of ATXN1 (Ataxin-1)
S116Y (p.Ser116Tyr) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S116Y (p.Ser116Tyr) variant details
- p.Ser116Tyr
- TOPMed rs1166684970
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.52
- CADD 25.60
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available