F78L (p.Phe78Leu) variant of CYBB (NADPH oxidase 2)
F78L (p.Phe78Leu) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
F78L (p.Phe78Leu) variant details
- p.Phe78Leu
- gnomAD X-37783582-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.34
- CADD 21.80
- PolyPhen-2 0.10
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available