L79F (p.Leu79Phe) variant of CASQ2 (Calsequestrin-2)
L79F (p.Leu79Phe) 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; not provided; Catecholaminergic polymorphic ventricula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L79F (p.Leu79Phe) variant details
- p.Leu79Phe
- rs771298193
- ClinGen CA1023964
- ClinVar RCV000523944
- ClinVar RCV002448581
- Uncertain significance
- Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.59
- MetaLR 0.60
- MetaSVM 0.08
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Catecholaminergic polymo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00024)
- 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)