Q31E (p.Gln31Glu) variant of SETX (Helicase senataxin)
Q31E (p.Gln31Glu) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q31E (p.Gln31Glu) variant details
- p.Gln31Glu
- TOPMed rs1848480287
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.20
- CADD 9.90
- PolyPhen-2 0.01
- SIFT 0.88
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available