E27G (p.Glu27Gly) variant of ATXN1 (Ataxin-1)
E27G (p.Glu27Gly) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- 1000Genomes rs139225641
- ExAC rs139225641
- gnomAD rs139225641
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.10
- CADD 26.40
- PolyPhen-2 0.66
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available