C64W (p.Cys64Trp) variant of KCNH2 (hERG)
C64W (p.Cys64Trp) 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.
C64W (p.Cys64Trp) variant details
- p.Cys64Trp
- rs199473414
- ClinGen CA006038
- ClinVar RCV000058057
- UniProt VAR 074779
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.81
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 67.3
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)