L75V (p.Leu75Val) variant of CYBB (NADPH oxidase 2)
L75V (p.Leu75Val) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L75V (p.Leu75Val) variant details
- p.Leu75Val
- ESP rs141798777
- ExAC rs141798777
- TOPMed rs141798777
- gnomAD rs141798777
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.83
- CADD 24.50
- Population evidence available
- Structural context available