G64E (p.Gly64Glu) variant of ATXN1 (Ataxin-1)
G64E (p.Gly64Glu) 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 0.26 / 1. The record also includes population frequency data and structural context.
G64E (p.Gly64Glu) variant details
- p.Gly64Glu
- NCI-TCGA Cosmic COSV5521
- cosmic curated COSV55215
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.17
- AlphaMissense 0.13
- MetaLR 0.05
- MetaSVM -1.10
- CADD 19.70
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available