R92M (p.Arg92Met) variant of ATXN2 (Ataxin-2)
R92M (p.Arg92Met) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R92M (p.Arg92Met) variant details
- p.Arg92Met
- gnomAD 12-111453658-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 21.40
- Population evidence available
- Structural context available
- Literature evidence available