D134N (p.Asp134Asn) variant of CALM2 (Calmodulin-2)
D134N (p.Asp134Asn) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
D134N (p.Asp134Asn) variant details
- p.Asp134Asn
- rs398124650
- ClinGen CA346719040
- ClinVar RCV000523452
- ClinVar RCV000532708
- 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: Likely pathogenic (Long QT syndrome 15; Long QT syndrome 1)
- 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)