Y33C (p.Tyr33Cys) variant of CYBB (NADPH oxidase 2)
Y33C (p.Tyr33Cys) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Y33C (p.Tyr33Cys) variant details
- p.Tyr33Cys
- gnomAD X-37782140-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.87
- CADD 23.90
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available