H72Q (p.His72Gln) variant of SETX (Helicase senataxin)
H72Q (p.His72Gln) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H72Q (p.His72Gln) variant details
- p.His72Gln
- TOPMed rs939285966
- gnomAD rs939285966
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.27
- CADD 20.10
- PolyPhen-2 0.22
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available