E2A (p.Glu2Ala) variant of ATXN3 (Ataxin-3)
E2A (p.Glu2Ala) 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.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- gnomAD rs2068476049
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 27.20
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)