K40E (p.Lys40Glu) variant of CASQ2 (Calsequestrin-2)
K40E (p.Lys40Glu) 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; not provided; Catecholaminergic polymorphic ventricula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K40E (p.Lys40Glu) variant details
- p.Lys40Glu
- rs786205797
- ClinGen CA301942
- ClinVar RCV000170912
- ClinVar RCV000496259
- Uncertain significance
- Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.55
- MetaLR 0.52
- MetaSVM -0.20
- CADD 29.00
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Catecholaminergic polymo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)