R92K (p.Arg92Lys) variant of ATXN2 (Ataxin-2)
R92K (p.Arg92Lys) 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.
R92K (p.Arg92Lys) variant details
- p.Arg92Lys
- gnomAD 12-111453658-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 21.80
- Population evidence available
- Structural context available
- Literature evidence available