D118Y (p.Asp118Tyr) variant of TRDN (Triadin)
D118Y (p.Asp118Tyr) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D118Y (p.Asp118Tyr) variant details
- p.Asp118Tyr
- rs762075230
- ClinGen CA3984414
- ClinVar RCV002454301
- ClinVar RCV002550435
- Uncertain significance
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.26
- CADD 18.00
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-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)