Q74H (p.Gln74His) variant of NR3C1 (Glucocorticoid receptor)
Q74H (p.Gln74His) 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 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q74H (p.Gln74His) variant details
- p.Gln74His
- ExAC rs772411187
- gnomAD rs772411187
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.08
- CADD 21.70
- PolyPhen-2 0.55
- SIFT 0.02
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score 0.043