R37W (p.Arg37Trp) variant of ATXN2 (Ataxin-2)
R37W (p.Arg37Trp) in ATXN2 (Ataxin-2) 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.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 18.80
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available