L124V (p.Leu124Val) variant of SETX (Helicase senataxin)
L124V (p.Leu124Val) in SETX (Helicase senataxin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L124V (p.Leu124Val) variant details
- p.Leu124Val
- gnomAD rs1488062133
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.34
- AlphaMissense 0.46
- MetaLR 0.52
- MetaSVM 0.24
- CADD 25.70
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available