G4R (p.Gly4Arg) variant of RYR2 (Ryanodine receptor 2)
G4R (p.Gly4Arg) 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 Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs2527003251
- ClinGen CA345654157
- ClinVar RCV004011834
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.39
- MetaLR 0.79
- MetaSVM 0.42
- CADD 23.30
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)