F20L (p.Phe20Leu) variant of ATXN2 (Ataxin-2)
F20L (p.Phe20Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
F20L (p.Phe20Leu) variant details
- p.Phe20Leu
- TOPMed rs1159788344
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.25
- Population evidence available