C76Y (p.Cys76Tyr) variant of ATXN2 (Ataxin-2)
C76Y (p.Cys76Tyr) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
C76Y (p.Cys76Tyr) variant details
- p.Cys76Tyr
- TOPMed rs887112547
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 25.20
- Most common in the HGDP:FRENCH population (allele frequency 0.019)