C49Y (p.Cys49Tyr) variant of KCNH2 (hERG)
C49Y (p.Cys49Tyr) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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.
C49Y (p.Cys49Tyr) variant details
- p.Cys49Tyr
- rs199472840
- ClinGen CA004664
- ClinVar RCV000057912
- UniProt VAR 074772
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.43
- SIFT 0.00
- MutPred 0.85
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)