D16G (p.Asp16Gly) variant of SETX (Helicase senataxin)
D16G (p.Asp16Gly) 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.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- TOPMed rs1246552404
- gnomAD rs1246552404
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.35
- CADD 22.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available