Q53L (p.Gln53Leu) variant of NR3C1 (Glucocorticoid receptor)
Q53L (p.Gln53Leu) 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 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q53L (p.Gln53Leu) variant details
- p.Gln53Leu
- 1000Genomes rs1018341081
- TOPMed rs1018341081
- gnomAD rs1018341081
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.07
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0263