D75E (p.Asp75Glu) variant of ATXN2 (Ataxin-2)
D75E (p.Asp75Glu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D75E (p.Asp75Glu) variant details
- p.Asp75Glu
- gnomAD rs1315658955
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 22.90
- Population evidence available
- Structural context available