S54* (p.Ser54Ter) variant of NR3C1 (Glucocorticoid receptor)
S54* (p.Ser54Ter) in NR3C1 (Glucocorticoid receptor) is a protein-truncating change. 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.
S54* (p.Ser54Ter) variant details
- p.Ser54Ter
- cosmic curated COSV51543
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score 0.0138