Q109E (p.Gln109Glu) variant of NR3C1 (Glucocorticoid receptor)
Q109E (p.Gln109Glu) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
Q109E (p.Gln109Glu) variant details
- p.Gln109Glu
- TOPMed rs1486098461
- gnomAD rs1486098461
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.26
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)