P70S (p.Pro70Ser) variant of CYBB (NADPH oxidase 2)
P70S (p.Pro70Ser) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- gnomAD X-37783556-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.94
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available