V71D (p.Val71Asp) variant of CYBB (NADPH oxidase 2)
V71D (p.Val71Asp) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V71D (p.Val71Asp) variant details
- p.Val71Asp
- gnomAD X-37783560-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.98
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available