G133E (p.Gly133Glu) variant of CALM1 (Calmodulin-1)
G133E (p.Gly133Glu) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
G133E (p.Gly133Glu) variant details
- p.Gly133Glu
- rs1555366045
- ClinGen CA390690363
- ClinVar RCV000652517
- Ensembl rs1555366045
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.73
- MetaLR 0.55
- MetaSVM 0.15
- PolyPhen-2 0.89
- MutPred 0.68
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 4; Long QT)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)