E39* (p.Glu39Ter) variant of TG (Thyroglobulin)
E39* (p.Glu39Ter) in TG (Thyroglobulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E39* (p.Glu39Ter) variant details
- p.Glu39Ter
- ExAC rs771157696
- TOPMed rs771157696
- gnomAD rs771157696
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 39.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available