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 available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. 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
- Variant Prioritization Score for Impact Estimate 0.95
- CADD 38.00
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 75