S113N (p.Ser113Asn) variant of CASQ2 (Calsequestrin-2)
S113N (p.Ser113Asn) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiovascular phenotype; Catecholaminergic polymorphic ventricul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S113N (p.Ser113Asn) variant details
- p.Ser113Asn
- rs199750975
- ClinGen CA175375
- ClinVar RCV000150229
- ClinVar RCV000170907
- Uncertain significance
- not specified; Cardiovascular phenotype; Catecholaminergic polymorphic ventricul
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.44
- MetaLR 0.25
- MetaSVM -0.55
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.14
- ClinVar: Uncertain significance (not specified; Cardiovascular phenotype; Catecholaminergic polym)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)