T59R (p.Thr59Arg) variant of TRDN (Triadin)
T59R (p.Thr59Arg) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
T59R (p.Thr59Arg) variant details
- p.Thr59Arg
- rs397515459
- ClinGen CA144823
- ClinVar RCV000056261
- UniProt VAR 067350
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.83
- MetaLR 0.54
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 5)
- EBI: Pathogenic (in CARDAR)
- UniProt: Pathogenic (in CARDAR)
- Structural context available
- Cited in: Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death… (PMID 22422768)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)