V17I (p.Val17Ile) variant of CYBB (NADPH oxidase 2)
V17I (p.Val17Ile) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- gnomAD X-37782091-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.27
- CADD 12.40
- PolyPhen-2 0.07
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available