E123D (p.Glu123Asp) variant of NR3C1 (Glucocorticoid receptor)
E123D (p.Glu123Asp) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
E123D (p.Glu123Asp) variant details
- p.Glu123Asp
- gnomAD rs1397993996
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.24
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the South Asian population (allele frequency 4.6e-05)