E62D (p.Glu62Asp) variant of MYH7 (Myosin-7)
E62D (p.Glu62Asp) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
E62D (p.Glu62Asp) variant details
- p.Glu62Asp
- rs1893033359
- ClinGen CA389053634
- ClinVar RCV004014270
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.12
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)