R29L (p.Arg29Leu) variant of ATXN2 (Ataxin-2)
R29L (p.Arg29Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- gnomAD rs1885154332
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 19.50
- Most common in the African/African-American population (allele frequency 4.8e-05)