S113R (p.Ser113Arg) variant of CASQ2 (Calsequestrin-2)
S113R (p.Ser113Arg) 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; Cardiovascular phenotyp. 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.
S113R (p.Ser113Arg) variant details
- p.Ser113Arg
- rs758425455
- ClinGen CA1023935
- ClinVar RCV003817189
- ClinVar RCV004992883
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.52
- AlphaMissense 0.97
- MetaLR 0.24
- MetaSVM -0.51
- CADD 30.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; Cardiov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-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)