C85* (p.Cys85Ter) variant of CYBB (NADPH oxidase 2)
C85* (p.Cys85Ter) in CYBB (NADPH oxidase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
C85* (p.Cys85Ter) variant details
- p.Cys85Ter
- gnomAD X-37791977-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available