E58A (p.Glu58Ala) variant of KCNH2 (hERG)
E58A (p.Glu58Ala) in KCNH2 (hERG) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes experimental measurements, published literature, and structural context.
E58A (p.Glu58Ala) variant details
- p.Glu58Ala
- rs199472847
- ClinGen CA005322
- ClinVar RCV000057968
- UniProt VAR 074776
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.98
- MetaSVM 1.23
- CADD 28.60
- PolyPhen-2 0.00
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- Scores from arrayed automated patch clamp experiment for KCNH2: score 0.52
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)