E58Q (p.Glu58Gln) variant of KCNH2 (hERG)
E58Q (p.Glu58Gln) 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 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.
E58Q (p.Glu58Gln) variant details
- p.Glu58Gln
- rs199473413
- ClinGen CA369865745
- ClinVar RCV003819429
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.08
- PolyPhen-2 0.33
- SIFT 0.00
- MutPred 0.91
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 102
- 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)