R39W (p.Arg39Trp) variant of ATXN1 (Ataxin-1)
R39W (p.Arg39Trp) 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 0.25 / 1. The record also includes population frequency data and structural context.
R39W (p.Arg39Trp) variant details
- p.Arg39Trp
- rs1379316974
- NCI-TCGA Cosmic COSV5522
- cosmic curated COSV55221
- gnomAD rs1379316974
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.18
- CADD 24.50
- PolyPhen-2 0.74
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available