R92G (p.Arg92Gly) variant of ATXN2 (Ataxin-2)
R92G (p.Arg92Gly) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R92G (p.Arg92Gly) variant details
- p.Arg92Gly
- rs1227849917
- gnomAD 12-111453659-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 22.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available