V92L (p.Val92Leu) variant of TRDN (Triadin)
V92L (p.Val92Leu) 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. 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.
V92L (p.Val92Leu) variant details
- p.Val92Leu
- rs34808221
- ClinGen CA365568905
- ClinVar RCV002548121
- 1000Genomes rs34808221
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.14
- CADD 23.10
- PolyPhen-2 0.75
- SIFT 0.01
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 6.3e-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)