E58G (p.Glu58Gly) variant of KCNH2 (hERG)
E58G (p.Glu58Gly) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes experimental measurements, published literature, and structural context.
E58G (p.Glu58Gly) variant details
- p.Glu58Gly
- rs199472847
- ClinGen CA005331
- ClinVar RCV000057969
- ClinVar RCV000181920
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.83
- MetaLR 0.98
- MetaSVM 1.23
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 102
- 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)