L45L (p.Leu45Leu) variant of CYBB (NADPH oxidase 2)
L45L (p.Leu45Leu) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L45L (p.Leu45Leu) variant details
- p.Leu45Leu
- rs1473978630
- gnomAD X-37782177-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available