E70D (p.Glu70Asp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E70D (p.Glu70Asp) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiomyopathy; Hypertrophic cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
E70D (p.Glu70Asp) variant details
- p.Glu70Asp
- rs1225434780
- ClinGen CA380341711
- ClinVar RCV001035659
- ClinVar RCV002416328
- Conflicting interpretations
- Cardiomyopathy; Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.056
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.95
- ClinVar: Conflicting classifications of pathogenicity (Cardiomyopathy; Hypertrophic cardiomyopathy; Cardiovascular phen)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)