L75M (p.Leu75Met) variant of CYBB (NADPH oxidase 2)
L75M (p.Leu75Met) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L75M (p.Leu75Met) variant details
- p.Leu75Met
- ESP rs141798777
- ExAC rs141798777
- TOPMed rs141798777
- gnomAD rs141798777
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.77
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available