L46L (p.Leu46Leu) variant of CYBB (NADPH oxidase 2)
L46L (p.Leu46Leu) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L46L (p.Leu46Leu) variant details
- p.Leu46Leu
- gnomAD X-37782180-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 9.90
- Population evidence available
- Structural context available
- Literature evidence available