D96H (p.Asp96His) variant of CALM2 (Calmodulin-2)
D96H (p.Asp96His) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LQT15. 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
- in LQT15
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.41
- MutPred 0.76
- EBI: Pathogenic (in LQT15)
- UniProt: Pathogenic (in LQT15)
- 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)