L158F (p.Leu158Phe) variant of SETX (Helicase senataxin)
L158F (p.Leu158Phe) 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.
L158F (p.Leu158Phe) variant details
- p.Leu158Phe
- gnomAD rs1339485543
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.48
- CADD 23.30
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available