V149E (p.Val149Glu) variant of SETX (Helicase senataxin)
V149E (p.Val149Glu) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V149E (p.Val149Glu) variant details
- p.Val149Glu
- TOPMed rs1589775141
- gnomAD rs1589775141
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.70
- CADD 27.80
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available