E120D (p.Glu120Asp) variant of TRDN (Triadin)
E120D (p.Glu120Asp) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
E120D (p.Glu120Asp) variant details
- p.Glu120Asp
- rs1433101332
- ClinGen CA365568709
- ClinVar RCV003154023
- TOPMed rs1433101332
- Conflicting interpretations
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0699
- REVEL 0.03
- CADD 7.64
- PolyPhen-2 0.04
- SIFT 0.49
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)