S116P (p.Ser116Pro) variant of TRDN (Triadin)
S116P (p.Ser116Pro) 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; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S116P (p.Ser116Pro) variant details
- p.Ser116Pro
- rs768047321
- ClinGen CA147297278
- ClinVar RCV002456521
- ClinVar RCV002547497
- Uncertain significance
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.17
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)