H70R (p.His70Arg) variant of KCNH2 (hERG)
H70R (p.His70Arg) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Long QT syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes experimental measurements, published literature, and structural context.
H70R (p.His70Arg) variant details
- p.His70Arg
- rs199473419
- ClinGen CA006229
- ClinVar RCV000058083
- ClinVar RCV000181934
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.34
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.17
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Long QT syndrome; not provided)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 100
- Cited in: Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel… (PMID 10187793)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)