G127E (p.Gly127Glu) variant of ATXN3 (Ataxin-3)
G127E (p.Gly127Glu) 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 0.79 / 1. The record also includes population frequency data.
G127E (p.Gly127Glu) variant details
- p.Gly127Glu
- NCI-TCGA Cosmic COSV6149
- cosmic curated COSV61493
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.20
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available