E189D (p.Glu189Asp) variant of RYR2 (Ryanodine receptor 2)
E189D (p.Glu189Asp) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
E189D (p.Glu189Asp) variant details
- p.Glu189Asp
- rs1415931588
- ClinGen CA345375724
- ClinVar RCV003525711
- ClinGen CA345375725
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.97
- MetaLR 0.76
- MetaSVM 0.55
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)