R24Q (p.Arg24Gln) variant of ATXN1 (Ataxin-1)
R24Q (p.Arg24Gln) 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.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- TOPMed rs1189003389
- gnomAD rs1189003389
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.10
- CADD 23.20
- PolyPhen-2 0.47
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available