C66G (p.Cys66Gly) variant of KCNH2 (hERG)
C66G (p.Cys66Gly) 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 0.95 / 1. The record also includes experimental measurements, published literature, and structural context.
C66G (p.Cys66Gly) variant details
- p.Cys66Gly
- rs199473416
- ClinGen CA006132
- ClinVar RCV000058071
- UniProt VAR 008911
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel… (PMID 10187793)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)