V92I (p.Val92Ile) variant of TRDN (Triadin)
V92I (p.Val92Ile) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V92I (p.Val92Ile) variant details
- p.Val92Ile
- rs34808221
- ClinGen CA3984424
- ClinVar RCV000223000
- ClinVar RCV000618057
- Benign/Likely benign
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.06
- CADD 15.10
- PolyPhen-2 0.31
- SIFT 0.43
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.11)
- 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)