H126N (p.His126Asn) variant of SETX (Helicase senataxin)
H126N (p.His126Asn) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
H126N (p.His126Asn) variant details
- p.His126Asn
- TOPMed rs1198292384
- gnomAD rs1198292384
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.32
- CADD 23.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available