A53A (p.Ala53Ala) variant of CYBB (NADPH oxidase 2)
A53A (p.Ala53Ala) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A53A (p.Ala53Ala) variant details
- p.Ala53Ala
- gnomAD X-37783507-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available