H72L (p.His72Leu) variant of SETX (Helicase senataxin)
H72L (p.His72Leu) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H72L (p.His72Leu) variant details
- p.His72Leu
- gnomAD rs1294935001
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.47
- CADD 23.50
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available