E22D (p.Glu22Asp) variant of NR3C1 (Glucocorticoid receptor)
E22D (p.Glu22Asp) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- 1000Genomes rs6189
- ESP rs6189
- ExAC rs6189
- TOPMed rs6189
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.08
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.305