Y21H (p.Tyr21His) variant of SETX (Helicase senataxin)
Y21H (p.Tyr21His) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y21H (p.Tyr21His) variant details
- p.Tyr21His
- TOPMed rs1848482853
- gnomAD rs1848482853
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.48
- CADD 24.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available