S15C (p.Ser15Cys) variant of CASQ2 (Calsequestrin-2)
S15C (p.Ser15Cys) 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; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S15C (p.Ser15Cys) variant details
- p.Ser15Cys
- rs185539994
- ClinGen CA29625239
- ClinVar RCV002331377
- ClinVar RCV003107868
- Uncertain significance
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.17
- MetaLR 0.22
- MetaSVM -0.85
- CADD 23.40
- PolyPhen-2 0.80
- SIFT 0.25
- ClinVar: Uncertain significance (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)