E16D (p.Glu16Asp) variant of ATXN2 (Ataxin-2)
E16D (p.Glu16Asp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- TOPMed rs1885157378
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 13.10
- Population evidence available