L773P (p.Leu773Pro) variant of NR3C1 (Glucocorticoid receptor)
L773P (p.Leu773Pro) 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 0.93 / 1. The record also includes published literature and structural context.
L773P (p.Leu773Pro) variant details
- p.Leu773Pro
- rs104893912
- ClinGen CA126234
- ClinVar RCV000017538
- UniProt VAR 071936
- Pathogenic
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.94
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic (Glucocorticoid resistance)
- EBI: Pathogenic (in GCCR)
- UniProt: Pathogenic (in GCCR)
- Structural context available
- Cited in: A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing… (PMID 15769988)
- Cited in: Primary generalized glucocorticoid resistance and hypersensitivity. (PMID 21912096)