S83G (p.Ser83Gly) variant of CYBB (NADPH oxidase 2)
S83G (p.Ser83Gly) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S83G (p.Ser83Gly) variant details
- p.Ser83Gly
- gnomAD X-37783595-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available