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 0.52 / 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 0.518
- REVEL 0.62
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- KCNH2 MAVE Trafficking Scores: 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)