E39* (p.Glu39Ter) variant of CASQ2 (Calsequestrin-2)
E39* (p.Glu39Ter) in CASQ2 (Calsequestrin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E39* (p.Glu39Ter) variant details
- p.Glu39Ter
- rs756636650
- ClinGen CA341767232
- ClinVar RCV000579287
- ClinVar RCV002529041
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.14
- MetaLR 0.06
- MetaSVM -1.02
- CADD 39.00
- PolyPhen-2 0.09
- SIFT 0.26
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)