Y39F (p.Tyr39Phe) variant of SETX (Helicase senataxin)
Y39F (p.Tyr39Phe) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Y39F (p.Tyr39Phe) variant details
- p.Tyr39Phe
- TOPMed rs1255659172
- gnomAD rs1255659172
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.45
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available