Y54* (p.Tyr54Ter) variant of KCNH2 (hERG)
Y54* (p.Tyr54Ter) in KCNH2 (hERG) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LQT2. The record also includes experimental measurements and structural context.
Y54* (p.Tyr54Ter) variant details
- p.Tyr54Ter
- rs1554430962
- ClinGen CA369865774
- ClinVar RCV000618350
- Ensembl rs1554430962
- Pathogenic
- in LQT2
- Stop Gained
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 75