A57A (p.Ala57Ala) variant of CYBB (NADPH oxidase 2)
A57A (p.Ala57Ala) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A57A (p.Ala57Ala) variant details
- p.Ala57Ala
- rs781824754
- gnomAD X-37783519-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 12.90
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available
- Literature evidence available