L79I (p.Leu79Ile) variant of CYBB (NADPH oxidase 2)
L79I (p.Leu79Ile) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L79I (p.Leu79Ile) variant details
- p.Leu79Ile
- gnomAD X-37783583-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.48
- CADD 23.10
- PolyPhen-2 0.53
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available