G22R (p.Gly22Arg) variant of CASQ2 (Calsequestrin-2)
G22R (p.Gly22Arg) 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 2; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- rs759318407
- ClinGen CA1024007
- ClinVar RCV002364131
- ClinVar RCV003098270
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 2; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.88
- MetaLR 0.72
- MetaSVM 0.45
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 2; Cardiov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)