E109G (p.Glu109Gly) variant of ATXN3 (Ataxin-3)
E109G (p.Glu109Gly) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
E109G (p.Glu109Gly) variant details
- p.Glu109Gly
- ExAC rs771793716
- gnomAD rs771793716
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)