T66A (p.Thr66Ala) variant of SETX (Helicase senataxin)
T66A (p.Thr66Ala) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T66A (p.Thr66Ala) variant details
- p.Thr66Ala
- TOPMed rs1848296771
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.36
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available