G133E (p.Gly133Glu) variant of CALM2 (Calmodulin-2)
G133E (p.Gly133Glu) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. 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
- 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
- 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)