A51E (p.Ala51Glu) variant of CYBB (NADPH oxidase 2)
A51E (p.Ala51Glu) in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A51E (p.Ala51Glu) variant details
- p.Ala51Glu
- gnomAD X-37783500-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.72
- CADD 23.40
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available