S87* (p.Ser87Ter) variant of CYBB (NADPH oxidase 2)
S87* (p.Ser87Ter) in CYBB (NADPH oxidase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S87* (p.Ser87Ter) variant details
- p.Ser87Ter
- gnomAD X-37791982-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available