Y39H (p.Tyr39His) variant of SETX (Helicase senataxin)
Y39H (p.Tyr39His) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Y39H (p.Tyr39His) variant details
- p.Tyr39His
- gnomAD rs1229540765
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.53
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available