Y135C (p.Tyr135Cys) variant of ATXN1 (Ataxin-1)
Y135C (p.Tyr135Cys) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y135C (p.Tyr135Cys) variant details
- p.Tyr135Cys
- TOPMed rs1760878079
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.33
- AlphaMissense 0.15
- MetaLR 0.02
- MetaSVM -0.98
- CADD 25.70
- PolyPhen-2 0.97
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available