E90G (p.Glu90Gly) variant of ATXN3 (Ataxin-3)
E90G (p.Glu90Gly) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
E90G (p.Glu90Gly) variant details
- p.Glu90Gly
- gnomAD rs2064461479
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 25.00
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)