D16E (p.Asp16Glu) variant of KCNH2 (hERG)
D16E (p.Asp16Glu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- rs746628164
- ClinGen CA039817
- ClinVar RCV002574293
- ExAC rs746628164
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.47
- ESM-1b 0.94
- AlphaMissense 0.96
- MetaLR 0.84
- MetaSVM 0.78
- CADD 24.30
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 98.8
- 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)