W62G (p.Trp62Gly) variant of SETX (Helicase senataxin)
W62G (p.Trp62Gly) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
W62G (p.Trp62Gly) variant details
- p.Trp62Gly
- ExAC rs769895120
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.65
- CADD 29.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available