S83R (p.Ser83Arg) variant of CYBB (NADPH oxidase 2)
S83R (p.Ser83Arg) in CYBB (NADPH oxidase 2) is a missense 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.
S83R (p.Ser83Arg) variant details
- p.Ser83Arg
- gnomAD X-37783597-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.65
- CADD 23.10
- PolyPhen-2 0.53
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available