R2C (p.Arg2Cys) variant of ATXN2 (Ataxin-2)
R2C (p.Arg2Cys) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
R2C (p.Arg2Cys) variant details
- p.Arg2Cys
- Ensembl rs1019391909
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 22.70
- Population evidence available