C76R (p.Cys76Arg) variant of ATXN2 (Ataxin-2)
C76R (p.Cys76Arg) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
C76R (p.Cys76Arg) variant details
- p.Cys76Arg
- gnomAD 12-111453662-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 22.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Literature evidence available