G605V (p.Gly605Val) variant of RYR2 (Ryanodine receptor 2)
G605V (p.Gly605Val) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G605V (p.Gly605Val) variant details
- p.Gly605Val
- rs1663391660
- ClinGen CA345388337
- ClinVar RCV003527236
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.81
- MetaLR 0.92
- MetaSVM 1.02
- CADD 26.30
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)