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 0.92 / 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 0.923
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.98
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: 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)