A23G (p.Ala23Gly) variant of ATXN2 (Ataxin-2)
A23G (p.Ala23Gly) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- TOPMed rs998941502
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 16.60
- Population evidence available