I8V (p.Ile8Val) variant of CASQ2 (Calsequestrin-2)
I8V (p.Ile8Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- rs1649206559
- ClinGen CA341767432
- ClinVar RCV002557784
- TOPMed rs1649206559
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.08
- MetaLR 0.06
- MetaSVM -1.03
- CADD 1.24
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)