N92S (p.Asn92Ser) variant of SETX (Helicase senataxin)
N92S (p.Asn92Ser) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N92S (p.Asn92Ser) variant details
- p.Asn92Ser
- ExAC rs751308926
- TOPMed rs751308926
- gnomAD rs751308926
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.15
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available