R59L (p.Arg59Leu) variant of ATXN3 (Ataxin-3)
R59L (p.Arg59Leu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
R59L (p.Arg59Leu) variant details
- p.Arg59Leu
- 1000Genomes rs531719156
- ExAC rs531719156
- gnomAD rs531719156
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)