R92R (p.Arg92Arg) variant of ATXN2 (Ataxin-2)
R92R (p.Arg92Arg) in ATXN2 (Ataxin-2) is a synonymous 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.
R92R (p.Arg92Arg) variant details
- p.Arg92Arg
- gnomAD 12-111453657-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available