p.Leu52 Ala53del variant of CYBB (NADPH oxidase 2)
p.Leu52 Ala53del in CYBB (NADPH oxidase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu52 Ala53del variant details
- gnomAD X-37783492-AGCACT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available