R88L (p.Arg88Leu) variant of ATXN2 (Ataxin-2)
R88L (p.Arg88Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R88L (p.Arg88Leu) variant details
- p.Arg88Leu
- cosmic curated COSV66482
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 20.90
- Population evidence available
- Structural context available