I89V (p.Ile89Val) variant of CASQ2 (Calsequestrin-2)
I89V (p.Ile89Val) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I89V (p.Ile89Val) variant details
- p.Ile89Val
- rs368650614
- ClinGen CA1023961
- ClinVar RCV002428726
- ClinVar RCV003102083
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polym
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.24
- MetaLR 0.33
- MetaSVM -0.62
- CADD 20.60
- PolyPhen-2 0.11
- SIFT 0.48
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; Catecho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)