R33Q (p.Arg33Gln) variant of CASQ2 (Calsequestrin-2)
R33Q (p.Arg33Gln) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs749547712
- ClinGen CA1023999
- NCI-TCGA Cosmic COSV5477
- ClinVar RCV002554554
- Pathogenic/Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymor
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.81
- AlphaMissense 0.72
- MetaLR 0.69
- MetaSVM 0.36
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia; Catechola)
- EBI: Pathogenic (in CPVT2)
- UniProt: Pathogenic (in CPVT2)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Characterization of human cardiac calsequestrin and its deleterious mutants. (PMID 17881003)
- Cited in: Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of… (PMID 18399795)