T59M (p.Thr59Met) variant of TRDN (Triadin)
T59M (p.Thr59Met) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T59M (p.Thr59Met) variant details
- p.Thr59Met
- rs397515459
- ClinGen CA3984454
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10052
- Conflicting interpretations
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.61
- AlphaMissense 0.83
- MetaLR 0.54
- MetaSVM 0.09
- CADD 28.50
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Pathogenic (in CARDAR)
- UniProt: Pathogenic (in CARDAR)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)