W493R (p.Trp493Arg) variant of POR (NADPH--cytochrome P450 reductase)
W493R (p.Trp493Arg) 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 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
W493R (p.Trp493Arg) variant details
- p.Trp493Arg
- rs2116630442
- ClinGen CA367750063
- ClinVar RCV002227920
- Ensembl rs2116630442
- Likely pathogenic
- Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.98
- MetaLR 0.65
- MetaSVM 0.57
- SIFT 0.00
- ClinVar: Likely pathogenic (Antley-Bixler syndrome with genital anomalies and disordered ste)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)