E497D (p.Glu497Asp) variant of MYH7 (Myosin-7)
E497D (p.Glu497Asp) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; MYH7-related disorder; Myopathy, myosin storage, autos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E497D (p.Glu497Asp) variant details
- p.Glu497Asp
- rs267606911
- ClinGen CA010843
- ClinVar RCV000015184
- ClinVar RCV000204929
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; MYH7-related disorder; Myopathy, myosin storage, autos
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.88
- CADD 23.70
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; MYH7-related disorder; Myopathy, myosi)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Gene mutations in apical hypertrophic cardiomyopathy. (PMID 16267253)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)