C53F (p.Cys53Phe) variant of CASQ2 (Calsequestrin-2)
C53F (p.Cys53Phe) 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 provided; Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
C53F (p.Cys53Phe) variant details
- p.Cys53Phe
- rs151168851
- ClinGen CA29625172
- ClinVar RCV001759739
- ClinVar RCV002400235
- Uncertain significance
- not provided; Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovas
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.41
- AlphaMissense 0.91
- MetaLR 0.24
- MetaSVM -0.60
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Catecholaminergic polymorphic ventricular tachycar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- 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)