R33L (p.Arg33Leu) variant of CASQ2 (Calsequestrin-2)
R33L (p.Arg33Leu) 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 0.69 / 1. The record also includes published literature and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- rs749547712
- ClinGen CA341767265
- ClinVar RCV002561097
- ExAC rs749547712
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.72
- MetaLR 0.69
- MetaSVM 0.36
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic (in CPVT2)
- UniProt: Pathogenic (in CPVT2)
- 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)