I11F (p.Ile11Phe) variant of CASQ2 (Calsequestrin-2)
I11F (p.Ile11Phe) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I11F (p.Ile11Phe) variant details
- p.Ile11Phe
- rs2101130741
- ClinGen CA341767414
- ClinVar RCV002324262
- ClinVar RCV002551082
- Uncertain significance
- Cardiovascular phenotype; Catecholaminergic polymorphic ventricular tachycardia
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.02
- CADD 6.66
- PolyPhen-2 0.00
- SIFT 0.53
- 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 9e-07)
- 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)