E14K (p.Glu14Lys) variant of POR (NADPH--cytochrome P450 reductase)
E14K (p.Glu14Lys) 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 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- ESP rs373053855
- ExAC rs373053855
- TOPMed rs373053855
- gnomAD rs373053855
- Uncertain significance
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Missense
- ClinVar: Uncertain significance (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreduc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available