T3A (p.Thr3Ala) variant of SETX (Helicase senataxin)
T3A (p.Thr3Ala) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- Ensembl rs1848488166
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.39
- CADD 25.80
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available