G4V (p.Gly4Val) variant of RYR2 (Ryanodine receptor 2)
G4V (p.Gly4Val) 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 1; Cardiovascular phenotyp. 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.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- rs866878858
- ClinGen CA39930528
- ClinVar RCV002560562
- ClinVar RCV003365574
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.28
- MetaLR 0.80
- MetaSVM 0.39
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; Cardiov)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00044)
- 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)