Y88H (p.Tyr88His) variant of SETX (Helicase senataxin)
Y88H (p.Tyr88His) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Y88H (p.Tyr88His) variant details
- p.Tyr88His
- ExAC rs779659472
- gnomAD rs779659472
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.52
- CADD 25.70
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available