D134H (p.Asp134His) variant of CALM2 (Calmodulin-2)
D134H (p.Asp134His) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Long QT syndrome 15; Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
D134H (p.Asp134His) variant details
- p.Asp134His
- rs398124650
- ClinGen CA186022
- ClinVar RCV000143839
- ClinVar RCV000162066
- Pathogenic/Likely pathogenic
- Long QT syndrome 15; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.41
- SIFT 0.00
- MutPred 0.80
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome 15; Long QT syndrome 1)
- 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)