K43R (p.Lys43Arg) variant of CASQ2 (Calsequestrin-2)
K43R (p.Lys43Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- rs1163471411
- ClinGen CA341767199
- ClinVar RCV002552134
- TOPMed rs1163471411
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.31
- MetaLR 0.20
- MetaSVM -0.82
- CADD 23.40
- PolyPhen-2 0.12
- SIFT 0.15
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)