A55A (p.Ala55Ala) variant of CYBB (NADPH oxidase 2)
A55A (p.Ala55Ala) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A55A (p.Ala55Ala) variant details
- p.Ala55Ala
- rs1556464863
- gnomAD X-37783513-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.281
- CADD 12.30
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available