P56S (p.Pro56Ser) variant of CYBB (NADPH oxidase 2)
P56S (p.Pro56Ser) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
P56S (p.Pro56Ser) variant details
- p.Pro56Ser
- gnomAD X-37783514-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.71
- CADD 22.10
- PolyPhen-2 1.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available