T14A (p.Thr14Ala) variant of SETX (Helicase senataxin)
T14A (p.Thr14Ala) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- ExAC rs775065109
- gnomAD rs775065109
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.23
- CADD 15.40
- PolyPhen-2 0.05
- SIFT 0.27
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available