K47N (p.Lys47Asn) variant of CASQ2 (Calsequestrin-2)
K47N (p.Lys47Asn) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- rs1553197917
- ClinGen CA341767168
- ClinVar RCV000625057
- ClinVar RCV001700264
- Uncertain significance
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.67
- MetaLR 0.56
- MetaSVM 0.10
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Catecholaminergic polymorphic ventricu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-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)