E58K (p.Glu58Lys) variant of CASQ2 (Calsequestrin-2)
E58K (p.Glu58Lys) 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; Catecholaminergic polym. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- rs376824588
- ClinGen CA29625150
- ClinVar RCV002564348
- ClinVar RCV004996151
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 2; Catecholaminergic polym
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.19
- MetaLR 0.07
- MetaSVM -1.04
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.28
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 2; Catecho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)