I34M (p.Ile34Met) variant of POR (NADPH--cytochrome P450 reductase)
I34M (p.Ile34Met) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes population frequency data and structural context.
I34M (p.Ile34Met) variant details
- p.Ile34Met
- ExAC rs371758475
- TOPMed rs371758475
- gnomAD rs371758475
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available