R7W (p.Arg7Trp) variant of ATXN1 (Ataxin-1)
R7W (p.Arg7Trp) 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 0.44 / 1. The record also includes population frequency data and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- NCI-TCGA TCGA novel
- TOPMed rs1760897481
- gnomAD rs1760897481
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.39
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available