A6V (p.Ala6Val) variant of TRDN (Triadin)
A6V (p.Ala6Val) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs764897557
- ClinGen CA3984523
- ClinVar RCV000607773
- ClinVar RCV002487077
- Conflicting interpretations
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.09
- CADD 22.70
- PolyPhen-2 0.26
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)