G56R (p.Gly56Arg) variant of ATXN1 (Ataxin-1)
G56R (p.Gly56Arg) 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 0.33 / 1. The record also includes population frequency data and structural context.
G56R (p.Gly56Arg) variant details
- p.Gly56Arg
- rs767419937
- NCI-TCGA Cosmic COSV9978
- cosmic curated COSV99786
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.14
- CADD 16.20
- PolyPhen-2 0.22
- SIFT 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available