N93S (p.Asn93Ser) variant of SETX (Helicase senataxin)
N93S (p.Asn93Ser) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N93S (p.Asn93Ser) variant details
- p.Asn93Ser
- TOPMed rs1421119656
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.26
- CADD 20.10
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available