W56* (p.Trp56Ter) variant of SLC6A19 (Q695T7)
W56* (p.Trp56Ter) in SLC6A19 (Q695T7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and structural context.
W56* (p.Trp56Ter) variant details
- p.Trp56Ter
- rs1745712448
- ClinGen CA359060866
- ClinVar RCV003100579
- TOPMed rs1745712448
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available