W16* (p.Trp16Ter) variant of TG (Thyroglobulin)
W16* (p.Trp16Ter) 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 0.25 / 1. The record also includes population frequency data and structural context.
W16* (p.Trp16Ter) variant details
- p.Trp16Ter
- rs780846892
- ClinGen CA4882765
- ClinVar RCV001170075
- ExAC rs780846892
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 24.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available