R59* (p.Arg59Ter) variant of NR3C1 (Glucocorticoid receptor)
R59* (p.Arg59Ter) in NR3C1 (Glucocorticoid receptor) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R59* (p.Arg59Ter) variant details
- p.Arg59Ter
- rs781064223
- ExAC rs781064223
- TOPMed rs781064223
- gnomAD rs781064223
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- 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 -0.0872