V66I (p.Val66Ile) variant of TRDN (Triadin)
V66I (p.Val66Ile) 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; not specified; Catecholaminergic polymorphic ventricul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V66I (p.Val66Ile) variant details
- p.Val66Ile
- rs372169818
- ClinGen CA3984449
- ClinVar RCV002526107
- ClinVar RCV003403287
- Uncertain significance
- Cardiovascular phenotype; not specified; Catecholaminergic polymorphic ventricul
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.27
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.23
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Catecholaminergic polym)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)