E58K (p.Glu58Lys) variant of KCNH2 (hERG)
E58K (p.Glu58Lys) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of KCNH2-related disorder; Long QT syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- rs199473413
- ClinGen CA005294
- ClinVar RCV000057966
- ClinVar RCV000472868
- Pathogenic/Likely pathogenic
- KCNH2-related disorder; Long QT syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.08
- CADD 33.00
- PolyPhen-2 0.33
- ClinVar: Pathogenic/Likely pathogenic (KCNH2-related disorder; Long QT syndrome; Cardiovascular phenoty)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- Scores from arrayed automated patch clamp experiment for KCNH2: score 0.52
- 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)