M1T (p.Met1Thr) variant of CASQ2 (Calsequestrin-2)
M1T (p.Met1Thr) 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 not provided; Catecholaminergic polymorphic ventricular tachycardia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1553197939
- ClinGen CA341767476
- ClinVar RCV000523914
- ClinVar RCV001796094
- Pathogenic/Likely pathogenic
- not provided; Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- MetaLR 0.46
- MetaSVM 0.01
- PolyPhen-2 0.93
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Catecholaminergic polymorphic ventricular tachycar)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)