R23K (p.Arg23Lys) variant of NR3C1 (Glucocorticoid receptor)
R23K (p.Arg23Lys) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R23K (p.Arg23Lys) variant details
- p.Arg23Lys
- rs6190
- ClinGen CA3487144
- cosmic curated COSV99039
- ClinVar RCV000317840
- Uncertain significance
- not provided; Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.14
- CADD 21.10
- PolyPhen-2 0.07
- SIFT 0.21
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:KALASH population (allele frequency 0.12)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.555
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: Five missense variants in the amino-terminal domain of the glucocorticoid receptor: no association with puerperal… (PMID 10898924)