L76M (p.Leu76Met) variant of CYBB (NADPH oxidase 2)
L76M (p.Leu76Met) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L76M (p.Leu76Met) variant details
- p.Leu76Met
- gnomAD X-37783574-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.77
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available