D132N (p.Asp132Asn) variant of CALM1 (Calmodulin-1)
D132N (p.Asp132Asn) 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 0.41 / 1. The record also includes published literature and structural context.
D132N (p.Asp132Asn) variant details
- p.Asp132Asn
- rs1595102640
- ClinGen CA390690352
- ClinVar RCV000792817
- Ensembl rs1595102640
- Pathogenic
- Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.41
- MetaLR 0.27
- MetaSVM -0.59
- PolyPhen-2 0.24
- MutPred 0.72
- 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)