C86Y (p.Cys86Tyr) variant of CYBB (NADPH oxidase 2)
C86Y (p.Cys86Tyr) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C86Y (p.Cys86Tyr) variant details
- p.Cys86Tyr
- gnomAD X-37791979-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.82
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available