D3E (p.Asp3Glu) variant of RYR2 (Ryanodine receptor 2)
D3E (p.Asp3Glu) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia. The record also includes published literature and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- rs2527003204
- ClinGen CA345654155
- ClinVar RCV004016509
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia
- Missense
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)