A10E (p.Ala10Glu) variant of TRDN (Triadin)
A10E (p.Ala10Glu) 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 0.43 / 1. The record also includes published literature and structural context.
A10E (p.Ala10Glu) variant details
- p.Ala10Glu
- rs75703547
- ClinGen CA147302804
- ClinVar RCV002801007
- Ensembl rs75703547
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.50
- MetaLR 0.15
- MetaSVM -0.90
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.61
- 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)