C85Y (p.Cys85Tyr) variant of CYBB (NADPH oxidase 2)
C85Y (p.Cys85Tyr) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
C85Y (p.Cys85Tyr) variant details
- p.Cys85Tyr
- gnomAD X-37791976-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.68
- CADD 23.50
- PolyPhen-2 0.13
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available