E58* (p.Glu58Ter) variant of KCNH2 (hERG)
E58* (p.Glu58Ter) 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 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.
E58* (p.Glu58Ter) variant details
- p.Glu58Ter
- rs199473413
- ClinGen CA369865747
- ClinVar RCV003531706
- Pathogenic
- in LQT2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.08
- PolyPhen-2 0.33
- SIFT 0.00
- MutPred 0.91
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 102
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)