Q53P (p.Gln53Pro) variant of NR3C1 (Glucocorticoid receptor)
Q53P (p.Gln53Pro) 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 0.15 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q53P (p.Gln53Pro) variant details
- p.Gln53Pro
- 1000Genomes rs1018341081
- TOPMed rs1018341081
- gnomAD rs1018341081
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.08
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0263