P308L (p.Pro308Leu) variant of CASQ2 (Calsequestrin-2)
P308L (p.Pro308Leu) 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 Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P308L (p.Pro308Leu) variant details
- p.Pro308Leu
- rs139228801
- ClinGen CA301936
- ClinVar RCV000170910
- ClinVar RCV000618569
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Catecholaminergic polymorphic ventricula
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.85
- MetaLR 0.69
- MetaSVM 0.42
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Catecholaminergic polymo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 7.2e-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)