G47R (p.Gly47Arg) variant of CYBB (NADPH oxidase 2)
G47R (p.Gly47Arg) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- gnomAD X-37782181-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available