W6L (p.Trp6Leu) variant of SETX (Helicase senataxin)
W6L (p.Trp6Leu) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
W6L (p.Trp6Leu) variant details
- p.Trp6Leu
- TOPMed rs1848487351
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.67
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available