Y43C (p.Tyr43Cys) variant of KCNH2 (hERG)
Y43C (p.Tyr43Cys) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Long QT syndrome; Long QT syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
Y43C (p.Tyr43Cys) variant details
- p.Tyr43Cys
- rs199472836
- ClinGen CA004427
- ClinVar RCV000057889
- ClinVar RCV000181926
- Pathogenic
- not provided; Long QT syndrome; Long QT syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.16
- CADD 31.00
- PolyPhen-2 0.00
- ClinVar: Pathogenic (not provided; Long QT syndrome; Long QT syndrome 2)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- Scores from arrayed automated patch clamp experiment for KCNH2: score 0.38
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)