E45D (p.Glu45Asp) variant of MYH7 (Myosin-7)
E45D (p.Glu45Asp) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy. 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.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- rs397516102
- ClinGen CA010647
- ClinVar RCV000035719
- gnomAD rs397516102
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.58
- MetaSVM -0.16
- CADD 21.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)