G90R (p.Gly90Arg) variant of CASQ2 (Calsequestrin-2)
G90R (p.Gly90Arg) 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 1; Catecholaminergic polym. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G90R (p.Gly90Arg) variant details
- p.Gly90Arg
- rs1208892614
- ClinGen CA341765458
- ClinVar RCV002437354
- ClinVar RCV003102116
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polym
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.71
- MetaLR 0.65
- MetaSVM 0.13
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; Catecho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)