D132V (p.Asp132Val) variant of CALM1 (Calmodulin-1)
D132V (p.Asp132Val) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
D132V (p.Asp132Val) variant details
- p.Asp132Val
- rs1887113791
- ClinGen CA390690357
- ClinVar RCV001219455
- Ensembl rs1887113791
- Pathogenic
- Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.96
- MetaLR 0.56
- MetaSVM 0.23
- PolyPhen-2 1.00
- MutPred 0.73
- ClinVar: Pathogenic (Long QT syndrome 14; Catecholaminergic polymorphic ventricular t)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)