Y58H (p.Tyr58His) variant of ATXN3 (Ataxin-3)
Y58H (p.Tyr58His) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
Y58H (p.Tyr58His) variant details
- p.Tyr58His
- ESP rs375315995
- ExAC rs375315995
- TOPMed rs375315995
- gnomAD rs375315995
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)