F76L (p.Phe76Leu) variant of TRDN (Triadin)
F76L (p.Phe76Leu) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
F76L (p.Phe76Leu) variant details
- p.Phe76Leu
- rs1782541809
- ClinGen CA365569025
- ClinVar RCV002552226
- NCI-TCGA TCGA novel
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.10
- CADD 22.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)