P308Q (p.Pro308Gln) variant of CASQ2 (Calsequestrin-2)
P308Q (p.Pro308Gln) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Catecholaminergic polymorphic ventricul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P308Q (p.Pro308Gln) variant details
- p.Pro308Gln
- rs139228801
- ClinGen CA175358
- ClinVar RCV000150221
- ClinVar RCV002516016
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Catecholaminergic polymorphic ventricul
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.76
- MetaLR 0.69
- MetaSVM 0.35
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Catecholaminergic polym)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)