S48S (p.Ser48Ser) variant of CYBB (NADPH oxidase 2)
S48S (p.Ser48Ser) in CYBB (NADPH oxidase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- gnomAD X-37783492-A-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.86
- Population evidence available
- Structural context available
- Literature evidence available