V489E (p.Val489Glu) variant of POR (NADPH--cytochrome P450 reductase)
V489E (p.Val489Glu) 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 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
V489E (p.Val489Glu) variant details
- p.Val489Glu
- rs28931606
- ClinGen CA257651
- ClinVar RCV000018400
- UniProt VAR 021157
- Pathogenic
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.97
- MetaLR 0.69
- MetaSVM 0.77
- SIFT 0.00
- ClinVar: Pathogenic (Antley-Bixler syndrome with genital anomalies and disordered ste)
- EBI: Pathogenic (in ABS1)
- UniProt: Pathogenic (in ABS1)
- Structural context available
- Cited in: Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PMID 14758361)
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)