E68A (p.Glu68Ala) variant of CALM2 (Calmodulin-2)
E68A (p.Glu68Ala) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
E68A (p.Glu68Ala) variant details
- p.Glu68Ala
- rs1687186092
- ClinGen CA346719535
- ClinVar RCV002242197
- Ensembl rs1687186092
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.65
- SIFT 0.00
- MutPred 0.72
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)