D118N (p.Asp118Asn) variant of NR3C1 (Glucocorticoid receptor)
D118N (p.Asp118Asn) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
D118N (p.Asp118Asn) variant details
- p.Asp118Asn
- TOPMed rs1223326476
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.05
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)