S69* (p.Ser69Ter) variant of NR3C1 (Glucocorticoid receptor)
S69* (p.Ser69Ter) in NR3C1 (Glucocorticoid receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S69* (p.Ser69Ter) variant details
- p.Ser69Ter
- ESP rs371034256
- ExAC rs371034256
- TOPMed rs371034256
- gnomAD rs371034256
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.105