Q53R (p.Gln53Arg) variant of NR3C1 (Glucocorticoid receptor)
Q53R (p.Gln53Arg) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q53R (p.Gln53Arg) variant details
- p.Gln53Arg
- 1000Genomes rs1018341081
- TOPMed rs1018341081
- gnomAD rs1018341081
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.11
- CADD 20.60
- PolyPhen-2 0.14
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0263