Y55C (p.Tyr55Cys) variant of CASQ2 (Calsequestrin-2)
Y55C (p.Tyr55Cys) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Y55C (p.Tyr55Cys) variant details
- p.Tyr55Cys
- rs1436844070
- ClinGen CA341767114
- ClinVar RCV000497364
- ClinVar RCV000618128
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.30
- MetaLR 0.12
- MetaSVM -0.95
- CADD 28.30
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 5e-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)