L10I (p.Leu10Ile) variant of CYBB (NADPH oxidase 2)
L10I (p.Leu10Ile) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- gnomAD X-37780105-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.34
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available