A51A (p.Ala51Ala) variant of CYBB (NADPH oxidase 2)
A51A (p.Ala51Ala) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A51A (p.Ala51Ala) variant details
- p.Ala51Ala
- rs782748288
- gnomAD X-37783501-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.22
- Most common in the African/African-American population (allele frequency 0.0002)
- Structural context available
- Literature evidence available