D72N (p.Asp72Asn) variant of TRDN (Triadin)
D72N (p.Asp72Asn) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D72N (p.Asp72Asn) variant details
- p.Asp72Asn
- rs919863113
- ClinGen CA365569055
- ClinVar RCV002427479
- ClinVar RCV002552081
- Uncertain significance
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.77
- AlphaMissense 0.94
- MetaLR 0.61
- MetaSVM 0.28
- CADD 28.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)