D132E (p.Asp132Glu) variant of CALM2 (Calmodulin-2)
D132E (p.Asp132Glu) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 15. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
D132E (p.Asp132Glu) variant details
- p.Asp132Glu
- rs398124648
- ClinGen CA186030
- ClinVar RCV000143838
- ClinVar RCV000162069
- Pathogenic
- Long QT syndrome 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.99
- MetaLR 0.45
- MetaSVM -0.21
- SIFT 0.00
- MutPred 0.77
- ClinVar: Pathogenic (Long QT syndrome 15)
- EBI: Pathogenic (in LQT15)
- UniProt: Pathogenic (in LQT15)
- Structural context available
- Cited in: Novel calmodulin mutations associated with congenital arrhythmia susceptibility. (PMID 24917665)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)