S48* (p.Ser48Ter) variant of CYBB (NADPH oxidase 2)
S48* (p.Ser48Ter) in CYBB (NADPH oxidase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S48* (p.Ser48Ter) variant details
- p.Ser48Ter
- gnomAD X-37783491-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available