Y575C (p.Tyr575Cys) variant of POR (NADPH--cytochrome P450 reductase)
Y575C (p.Tyr575Cys) 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 0.78 / 1. The record also includes published literature and structural context.
Y575C (p.Tyr575Cys) variant details
- p.Tyr575Cys
- rs121912975
- ClinGen CA257665
- ClinVar RCV000018411
- UniProt VAR 021159
- Pathogenic
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.70
- MetaLR 0.73
- MetaSVM 0.76
- 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: Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired… (PMID 15483095)
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)