L19P (p.Leu19Pro) variant of CYBB (NADPH oxidase 2)
L19P (p.Leu19Pro) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD X-37782098-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.88
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available