E8D (p.Glu8Asp) variant of CALM2 (Calmodulin-2)
E8D (p.Glu8Asp) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- rs1001080500
- ClinGen CA406470843
- ClinVar RCV002003340
- TOPMed rs1001080500
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.20
- MetaLR 0.11
- MetaSVM -1.02
- MutPred 0.35
- EBI: Likely benign
- UniProt: Likely benign
- 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)