C72F (p.Cys72Phe) variant of CYBB (NADPH oxidase 2)
C72F (p.Cys72Phe) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C72F (p.Cys72Phe) variant details
- p.Cys72Phe
- gnomAD X-37783563-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.97
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available