V16L (p.Val16Leu) variant of TRDN (Triadin)
V16L (p.Val16Leu) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V16L (p.Val16Leu) variant details
- p.Val16Leu
- rs974343553
- ClinGen CA147302801
- ClinVar RCV000609364
- ClinVar RCV002334018
- Uncertain significance
- Cardiovascular phenotype; not specified; Catecholaminergic polymorphic ventricul
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.21
- CADD 24.50
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Catecholaminergic polym)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-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)