T37S (p.Thr37Ser) variant of TRDN (Triadin)
T37S (p.Thr37Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
T37S (p.Thr37Ser) variant details
- p.Thr37Ser
- rs1554258810
- ClinGen CA365569269
- ClinVar RCV000639063
- Ensembl rs1554258810
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- AlphaMissense 0.34
- MetaLR 0.28
- MetaSVM -0.62
- PolyPhen-2 0.95
- SIFT 0.07
- EVE 0.44
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)