A49A (p.Ala49Ala) variant of CYBB (NADPH oxidase 2)
A49A (p.Ala49Ala) 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.
A49A (p.Ala49Ala) variant details
- p.Ala49Ala
- gnomAD X-37783495-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.19
- Population evidence available
- Structural context available
- Literature evidence available