R59H (p.Arg59His) variant of ATXN3 (Ataxin-3)
R59H (p.Arg59His) in ATXN3 (Ataxin-3) 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 0.63 / 1. The record also includes population frequency data.
R59H (p.Arg59His) variant details
- p.Arg59His
- rs531719156
- NCI-TCGA Cosmic COSV6149
- cosmic curated COSV61493
- 1000Genomes rs531719156
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)