E128K (p.Glu128Lys) variant of CASQ2 (Calsequestrin-2)
E128K (p.Glu128Lys) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Catecholaminergic polymorphic ventricu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
E128K (p.Glu128Lys) variant details
- p.Glu128Lys
- rs1557798151
- ClinGen CA341764414
- ClinVar RCV000768703
- ClinVar RCV002352276
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Catecholaminergic polymorphic ventricu
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.30
- MetaLR 0.31
- MetaSVM -0.55
- PolyPhen-2 0.63
- SIFT 0.10
- EVE 0.44
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Catecholaminergic poly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)