R39P (p.Arg39Pro) variant of ATXN1 (Ataxin-1)
R39P (p.Arg39Pro) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R39P (p.Arg39Pro) variant details
- p.Arg39Pro
- ExAC rs764254890
- TOPMed rs764254890
- gnomAD rs764254890
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.16
- CADD 25.00
- PolyPhen-2 0.72
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available