E3D (p.Glu3Asp) variant of TRDN (Triadin)
E3D (p.Glu3Asp) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- rs1185669572
- NCI-TCGA TCGA novel
- ClinGen CA365567992
- ClinVar RCV002573384
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.68
- MetaLR 0.38
- MetaSVM -0.26
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.59
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)