D112V (p.Asp112Val) variant of TRDN (Triadin)
D112V (p.Asp112Val) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Catecholaminergic polymorphic ventricular tachycardia 1; Catechola. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D112V (p.Asp112Val) variant details
- p.Asp112Val
- rs772376488
- ClinGen CA3984416
- ClinVar RCV002324333
- ClinVar RCV002507047
- Uncertain significance
- not provided; Catecholaminergic polymorphic ventricular tachycardia 1; Catechola
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.78
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Catecholaminergic polymorphic ventricular tachycar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)