E50D (p.Glu50Asp) variant of KCNH2 (hERG)
E50D (p.Glu50Asp) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- rs199472841
- ClinGen CA004747
- ClinVar RCV000057920
- ClinVar RCV002514285
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.62
- ESM-1b 0.75
- AlphaMissense 0.10
- MetaLR 0.92
- MetaSVM 0.98
- CADD 20.90
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 85.8
- 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)