L69W (p.Leu69Trp) variant of CYBB (NADPH oxidase 2)
L69W (p.Leu69Trp) 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 0.79 / 1. The record also includes population frequency data and structural context.
L69W (p.Leu69Trp) variant details
- p.Leu69Trp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.94
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available