L69V (p.Leu69Val) variant of SETX (Helicase senataxin)
L69V (p.Leu69Val) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L69V (p.Leu69Val) variant details
- p.Leu69Val
- TOPMed rs1227986427
- gnomAD rs1227986427
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.37
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available