M77V (p.Met77Val) variant of SETX (Helicase senataxin)
M77V (p.Met77Val) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M77V (p.Met77Val) variant details
- p.Met77Val
- TOPMed rs1275546682
- gnomAD rs1275546682
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.27
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available