L79F (p.Leu79Phe) variant of CYBB (NADPH oxidase 2)
L79F (p.Leu79Phe) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L79F (p.Leu79Phe) variant details
- p.Leu79Phe
- gnomAD X-37783583-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.73
- CADD 23.60
- PolyPhen-2 0.51
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available