S82Y (p.Ser82Tyr) variant of CYBB (NADPH oxidase 2)
S82Y (p.Ser82Tyr) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S82Y (p.Ser82Tyr) variant details
- p.Ser82Tyr
- gnomAD X-37783593-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.94
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available