T99S (p.Thr99Ser) variant of TRDN (Triadin)
T99S (p.Thr99Ser) 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 0.38 / 1. The record also includes published literature and structural context.
T99S (p.Thr99Ser) variant details
- p.Thr99Ser
- rs950385278
- ClinGen CA147297286
- ClinVar RCV003030644
- TOPMed rs950385278
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.37
- MetaLR 0.22
- MetaSVM -0.82
- PolyPhen-2 0.96
- SIFT 0.14
- EVE 0.19
- 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)