D130E (p.Asp130Glu) variant of CALM2 (Calmodulin-2)
D130E (p.Asp130Glu) 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 population frequency data, published literature, and structural context.
D130E (p.Asp130Glu) variant details
- p.Asp130Glu
- rs35617141
- ClinGen CA406473547
- ClinVar RCV001878519
- 1000Genomes rs35617141
- Pathogenic
- in LQT15
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.32
- MutPred 0.77
- EBI: Pathogenic (in LQT15)
- UniProt: Pathogenic (in LQT15)
- Population evidence available
- 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)