E136K (p.Glu136Lys) variant of CASQ2 (Calsequestrin-2)
E136K (p.Glu136Lys) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E136K (p.Glu136Lys) variant details
- p.Glu136Lys
- rs1288753581
- ClinGen CA341764363
- ClinVar RCV003023651
- TOPMed rs1288753581
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.63
- MetaLR 0.59
- MetaSVM 0.04
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.02
- 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 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)