D130N (p.Asp130Asn) variant of CALM2 (Calmodulin-2)
D130N (p.Asp130Asn) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
D130N (p.Asp130Asn) variant details
- p.Asp130Asn
- rs2103823638
- ClinGen CA346719068
- ClinVar RCV001922668
- Ensembl rs2103823638
- Pathogenic
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.84
- SIFT 0.02
- MutPred 0.77
- ClinVar: Pathogenic (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)