T65P (p.Thr65Pro) variant of KCNH2 (hERG)
T65P (p.Thr65Pro) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
T65P (p.Thr65Pro) variant details
- p.Thr65Pro
- rs121912511
- ClinGen CA006061
- ClinVar RCV000015515
- ClinVar RCV000058063
- Pathogenic
- Long QT syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.37
- MetaLR 0.98
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic (Long QT syndrome 2)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 86.5
- Cited in: A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by… (PMID 12354768)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)