A284P (p.Ala284Pro) variant of POR (NADPH--cytochrome P450 reductase)
A284P (p.Ala284Pro) 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 Differences in sex development; POR-related disorder; Antley-Bixler syndrome wit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A284P (p.Ala284Pro) variant details
- p.Ala284Pro
- rs121912974
- ClinGen CA257653
- ClinVar RCV000018401
- ClinVar RCV000170457
- Pathogenic
- Differences in sex development; POR-related disorder; Antley-Bixler syndrome wit
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.99
- MetaLR 0.70
- MetaSVM 0.73
- SIFT 0.00
- ClinVar: Pathogenic (Differences in sex development; POR-related disorder; Antley-Bix)
- EBI: Pathogenic (in ABS1 and DISPORD)
- UniProt: Pathogenic (in ABS1 and DISPORD)
- Population evidence available
- Structural context available
- Cited in: Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. (PMID 12116245)
- Cited in: Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PMID 14758361)