H72N (p.His72Asn) variant of SETX (Helicase senataxin)
H72N (p.His72Asn) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H72N (p.His72Asn) variant details
- p.His72Asn
- TOPMed rs1378691553
- gnomAD rs1378691553
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.31
- CADD 23.70
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available