V6M (p.Val6Met) variant of CYBB (NADPH oxidase 2)
V6M (p.Val6Met) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V6M (p.Val6Met) variant details
- p.Val6Met
- gnomAD X-37780093-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.51
- CADD 24.00
- PolyPhen-2 0.41
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available