D96H (p.Asp96His) variant of CALM3 (Calmodulin-3)
D96H (p.Asp96His) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 16; Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
D96H (p.Asp96His) variant details
- p.Asp96His
- rs1060502607
- ClinGen CA16616292
- ClinVar RCV002230393
- ClinVar RCV004594063
- Pathogenic
- Long QT syndrome 16; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.41
- MutPred 0.76
- ClinVar: Pathogenic (Long QT syndrome 16; Long QT syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)