A82V (p.Ala82Val) variant of TRDN (Triadin)
A82V (p.Ala82Val) 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; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A82V (p.Ala82Val) variant details
- p.Ala82Val
- rs1230125374
- ClinGen CA365568968
- cosmic curated COSV62131
- ClinVar RCV003009048
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.08
- CADD 23.60
- PolyPhen-2 0.20
- SIFT 0.02
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; Cardiov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)