V17F (p.Val17Phe) variant of CYBB (NADPH oxidase 2)
V17F (p.Val17Phe) in CYBB (NADPH oxidase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V17F (p.Val17Phe) variant details
- p.Val17Phe
- gnomAD X-37782089-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available