R454H (p.Arg454His) variant of POR (NADPH--cytochrome P450 reductase)
R454H (p.Arg454His) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Co. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data, published literature, and structural context.
R454H (p.Arg454His) variant details
- p.Arg454His
- rs28931608
- ClinGen CA257662
- ClinVar RCV000018406
- ClinVar RCV000018407
- Pathogenic/Likely pathogenic
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Co
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.08
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Antley-Bixler syndrome with genital anomalies and disordered ste)
- EBI: Pathogenic (in ABS1 and DISPORD)
- UniProt: Pathogenic (in ABS1 and DISPORD)
- Population evidence available
- Structural context available
- Cited in: Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PMID 14758361)
- Cited in: Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. (PMID 15220035)