G85S (p.Gly85Ser) variant of POR (NADPH--cytochrome P450 reductase)
G85S (p.Gly85Ser) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. The record also includes population frequency data and structural context.
G85S (p.Gly85Ser) variant details
- p.Gly85Ser
- ExAC rs782213151
- gnomAD rs782213151
- Pathogenic
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Missense
- ClinVar: Pathogenic (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreduc)
- UniProt: Pathogenic
- Population evidence available
- Structural context available