A55V (p.Ala55Val) variant of TRDN (Triadin)
A55V (p.Ala55Val) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- rs1333255264
- ClinGen CA365569156
- ClinVar RCV002592531
- gnomAD rs1333255264
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.73
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)