C53Y (p.Cys53Tyr) variant of CASQ2 (Calsequestrin-2)
C53Y (p.Cys53Tyr) in CASQ2 (Calsequestrin-2) 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 0.39 / 1. The record also includes published literature and structural context.
C53Y (p.Cys53Tyr) variant details
- p.Cys53Tyr
- rs151168851
- ClinGen CA341767129
- ClinVar RCV002557885
- ESP rs151168851
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.91
- MetaLR 0.24
- MetaSVM -0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.30
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)