G536R (p.Gly536Arg) variant of POR (NADPH--cytochrome P450 reductase)
G536R (p.Gly536Arg) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G536R (p.Gly536Arg) variant details
- p.Gly536Arg
- rs121912976
- ExAC rs121912976
- TOPMed rs121912976
- gnomAD rs121912976
- Pathogenic
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 1.00
- MetaLR 0.59
- MetaSVM 0.41
- SIFT 0.00
- ClinVar: Pathogenic (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreduc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered… (PMID 15793702)
- Cited in: Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase… (PMID 18559916)