P59L (p.Pro59Leu) variant of CASQ2 (Calsequestrin-2)
P59L (p.Pro59Leu) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P59L (p.Pro59Leu) variant details
- p.Pro59Leu
- rs2526106120
- ClinGen CA341767084
- ClinVar RCV004508310
- ClinVar RCV006488659
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.44
- MetaLR 0.25
- MetaSVM -0.52
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1; Cardiov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-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)