N72D (p.Asn72Asp) variant of NR3C1 (Glucocorticoid receptor)
N72D (p.Asn72Asp) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, experimental measurements, published literature, and structural context.
N72D (p.Asn72Asp) variant details
- p.Asn72Asp
- UniProt VAR 075797
- Uncertain significance
- Missense
- MetaLR 0.10
- MetaSVM -1.00
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score 0.0109
- Cited in: Novel hyperactive glucocorticoid receptor isoform identified within a human population. (PMID 21701417)