L10F (p.Leu10Phe) variant of CYBB (NADPH oxidase 2)
L10F (p.Leu10Phe) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- gnomAD X-37780105-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.40
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available