L46I (p.Leu46Ile) variant of CYBB (NADPH oxidase 2)
L46I (p.Leu46Ile) 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 0.59 / 1. The record also includes population frequency data and structural context.
L46I (p.Leu46Ile) variant details
- p.Leu46Ile
- NCI-TCGA Cosmic COSV6608
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.54
- CADD 22.20
- PolyPhen-2 0.10
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available