G5C (p.Gly5Cys) variant of RYR2 (Ryanodine receptor 2)
G5C (p.Gly5Cys) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- rs2148061465
- ClinGen CA345654163
- ClinVar RCV001804573
- ClinVar RCV002388675
- Uncertain significance
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.70
- MetaLR 0.86
- MetaSVM 0.81
- CADD 26.70
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)