L115H (p.Leu115His) variant of SETX (Helicase senataxin)
L115H (p.Leu115His) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L115H (p.Leu115His) variant details
- p.Leu115His
- TOPMed rs1848284240
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.50
- CADD 26.80
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available