R103G (p.Arg103Gly) variant of ATXN3 (Ataxin-3)
R103G (p.Arg103Gly) 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 0.33 / 1. The record also includes population frequency data.
R103G (p.Arg103Gly) variant details
- p.Arg103Gly
- NCI-TCGA Cosmic COSV6149
- cosmic curated COSV61494
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available