D46E (p.Asp46Glu) variant of KCNH2 (hERG)
D46E (p.Asp46Glu) 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 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- rs752503743
- ClinGen CA027854
- ClinVar RCV001843092
- ClinVar RCV001876025
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.92
- MetaSVM 0.98
- CADD 28.70
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 69.4
- 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)