A4E (p.Ala4Glu) variant of ATXN2 (Ataxin-2)
A4E (p.Ala4Glu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- TOPMed rs1885159648
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 8.88
- Population evidence available