G56E (p.Gly56Glu) variant of ATXN1 (Ataxin-1)
G56E (p.Gly56Glu) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G56E (p.Gly56Glu) variant details
- p.Gly56Glu
- gnomAD rs1461624485
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.05
- CADD 7.88
- PolyPhen-2 0.11
- SIFT 0.34
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available