I54T (p.Ile54Thr) variant of TRDN (Triadin)
I54T (p.Ile54Thr) 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 0.41 / 1. The record also includes published literature and structural context.
I54T (p.Ile54Thr) variant details
- p.Ile54Thr
- rs1562396418
- ClinGen CA365569165
- ClinVar RCV002544748
- Ensembl rs1562396418
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.12
- MetaLR 0.23
- MetaSVM -0.72
- PolyPhen-2 0.72
- SIFT 0.00
- EVE 0.54
- 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)