H625P (p.His625Pro) variant of POR (NADPH--cytochrome P450 reductase)
H625P (p.His625Pro) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. The record also includes population frequency data, published literature, and structural context.
H625P (p.His625Pro) variant details
- p.His625Pro
- rs2535415169
- ClinGen CA367750888
- ClinVar RCV003518766
- Likely pathogenic
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Missense
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia due to cytochrome P450 oxidoreduc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)