V90A (p.Val90Ala) variant of SETX (Helicase senataxin)
V90A (p.Val90Ala) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V90A (p.Val90Ala) variant details
- p.Val90Ala
- gnomAD rs1208136830
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.51
- CADD 25.10
- PolyPhen-2 0.66
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available