I747M (p.Ile747Met) variant of NR3C1 (Glucocorticoid receptor)
I747M (p.Ile747Met) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature.
I747M (p.Ile747Met) variant details
- p.Ile747Met
- rs104893910
- ClinGen CA126227
- ClinVar RCV000017534
- UniProt VAR 015633
- Pathogenic
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.46
- MetaLR 0.85
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic (Glucocorticoid resistance)
- EBI: Pathogenic (in GCCR)
- UniProt: Pathogenic (in GCCR)
- Cited in: A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal… (PMID 12050230)
- Cited in: Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol… (PMID 11589680)