F737L (p.Phe737Leu) variant of NR3C1 (Glucocorticoid receptor)
F737L (p.Phe737Leu) 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 0.89 / 1. The record also includes published literature.
F737L (p.Phe737Leu) variant details
- p.Phe737Leu
- rs121909727
- ClinGen CA126240
- ClinVar RCV000017541
- UniProt VAR 071935
- Pathogenic
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 0.88
- PolyPhen-2 0.71
- SIFT 0.14
- MutPred 0.89
- ClinVar: Pathogenic (Glucocorticoid resistance)
- EBI: Pathogenic (in GCCR)
- UniProt: Pathogenic (in GCCR)
- Cited in: Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S… (PMID 16449337)
- Cited in: A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing… (PMID 17635946)