R24W (p.Arg24Trp) variant of ATXN1 (Ataxin-1)
R24W (p.Arg24Trp) in ATXN1 (Ataxin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- rs1394208682
- gnomAD rs1394208682
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.13
- CADD 26.80
- PolyPhen-2 0.64
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available