R24P (p.Arg24Pro) variant of ATXN1 (Ataxin-1)
R24P (p.Arg24Pro) 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.
R24P (p.Arg24Pro) variant details
- p.Arg24Pro
- cosmic curated COSV55221
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.10
- CADD 23.80
- PolyPhen-2 0.61
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available