T74M (p.Thr74Met) variant of KCNH2 (hERG)
T74M (p.Thr74Met) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; 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.
T74M (p.Thr74Met) variant details
- p.Thr74Met
- rs199473422
- ClinGen CA006365
- ClinVar RCV000058097
- ClinVar RCV000807020
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.82
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: 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: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)