E8D (p.Glu8Asp) variant of CALM3 (Calmodulin-3)
E8D (p.Glu8Asp) in CALM3 (Calmodulin-3) 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 0.28 / 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
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -1.02
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)