R93C (p.Arg93Cys) variant of TRDN (Triadin)
R93C (p.Arg93Cys) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiovascular phenotype; Catecholaminergic polymorphic ventricul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R93C (p.Arg93Cys) variant details
- p.Arg93Cys
- rs370788759
- ClinGen CA3984423
- cosmic curated COSV10052
- ClinVar RCV000619360
- Conflicting interpretations
- not specified; Cardiovascular phenotype; Catecholaminergic polymorphic ventricul
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.07
- CADD 23.50
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype; Catecholaminergic polym)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.015)
- 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)