P59S (p.Pro59Ser) variant of CASQ2 (Calsequestrin-2)
P59S (p.Pro59Ser) 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 2; Catecholaminergic polym. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- rs866858282
- ClinGen CA29625145
- ClinVar RCV002529910
- ClinVar RCV003303018
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 2; Catecholaminergic polym
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.17
- MetaLR 0.08
- MetaSVM -0.98
- CADD 22.60
- PolyPhen-2 0.53
- SIFT 0.06
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 2; Catecho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)