L45I (p.Leu45Ile) variant of CYBB (NADPH oxidase 2)
L45I (p.Leu45Ile) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L45I (p.Leu45Ile) variant details
- p.Leu45Ile
- NCI-TCGA Cosmic COSV6608
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.47
- CADD 18.10
- PolyPhen-2 0.13
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available