S25Y (p.Ser25Tyr) variant of ATXN1 (Ataxin-1)
S25Y (p.Ser25Tyr) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S25Y (p.Ser25Tyr) variant details
- p.Ser25Tyr
- TOPMed rs1424936726
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.15
- CADD 23.40
- PolyPhen-2 0.12
- SIFT 0.01
- Population evidence available
- Structural context available