C64Y (p.Cys64Tyr) variant of KCNH2 (hERG)
C64Y (p.Cys64Tyr) 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 0.96 / 1. The record also includes experimental measurements, published literature, and structural context.
C64Y (p.Cys64Tyr) variant details
- p.Cys64Tyr
- rs199473415
- ClinGen CA006024
- ClinVar RCV000058054
- UniProt VAR 077953
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 67.3
- Cited in: Tetrameric Assembly of K(+) Channels Requires ER-Located Chaperone Proteins. (PMID 27916661)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)