R39L (p.Arg39Leu) variant of ATXN1 (Ataxin-1)
R39L (p.Arg39Leu) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R39L (p.Arg39Leu) variant details
- p.Arg39Leu
- cosmic curated COSV55226
- ExAC rs764254890
- TOPMed rs764254890
- gnomAD rs764254890
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.13
- CADD 23.20
- PolyPhen-2 0.28
- SIFT 0.03
- Population evidence available
- Structural context available