I559N (p.Ile559Asn) variant of NR3C1 (Glucocorticoid receptor)
I559N (p.Ile559Asn) 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 0.92 / 1. The record also includes published literature and structural context.
I559N (p.Ile559Asn) variant details
- p.Ile559Asn
- rs104893909
- ClinGen CA126225
- ClinVar RCV000017533
- UniProt VAR 015632
- Pathogenic
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.95
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic (Glucocorticoid resistance)
- EBI: Pathogenic (in GCCR)
- UniProt: Pathogenic (in GCCR)
- Structural context available
- Cited in: Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into… (PMID 11701741)
- Cited in: Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. (PMID 8445027)