C72C (p.Cys72Cys) variant of CYBB (NADPH oxidase 2)
C72C (p.Cys72Cys) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
C72C (p.Cys72Cys) variant details
- p.Cys72Cys
- rs782202693
- gnomAD X-37783564-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 13.20
- Population evidence available
- Structural context available
- Literature evidence available