Q25* (p.Gln25Ter) variant of TG (Thyroglobulin)
Q25* (p.Gln25Ter) 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 0.64 / 1. The record also includes population frequency data and structural context.
Q25* (p.Gln25Ter) variant details
- p.Gln25Ter
- rs755777744
- ClinGen CA372244625
- ClinVar RCV003716805
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available