S83V (p.Ser83Val) variant of CYBB (NADPH oxidase 2)
S83V (p.Ser83Val) in CYBB (NADPH oxidase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S83V (p.Ser83Val) variant details
- p.Ser83Val
- gnomAD X-37783592-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available