Q51* (p.Gln51Ter) variant of TG (Thyroglobulin)
Q51* (p.Gln51Ter) in TG (Thyroglobulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q51* (p.Gln51Ter) variant details
- p.Gln51Ter
- rs1839148591
- ClinGen CA372244894
- ClinVar RCV003672487
- TOPMed rs1839148591
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.687
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available