P56T (p.Pro56Thr) variant of CYBB (NADPH oxidase 2)
P56T (p.Pro56Thr) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P56T (p.Pro56Thr) variant details
- p.Pro56Thr
- gnomAD X-37783514-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.84
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available