D130G (p.Asp130Gly) variant of CALM2 (Calmodulin-2)
D130G (p.Asp130Gly) 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 0.88 / 1. The record also includes published literature and structural context.
D130G (p.Asp130Gly) variant details
- p.Asp130Gly
- rs730882252
- ClinGen CA186013
- ClinVar RCV000162062
- ClinVar RCV001781506
- Pathogenic
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.91
- MetaLR 0.84
- MetaSVM 0.88
- PolyPhen-2 0.98
- MutPred 0.77
- ClinVar: Pathogenic (Long QT syndrome 1)
- EBI: Pathogenic (in LQT15)
- UniProt: Pathogenic (in LQT15)
- Structural context available
- Cited in: Calmodulin mutations associated with recurrent cardiac arrest in infants. (PMID 23388215)
- Cited in: Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. (PMID 26164367)