E924K (p.Glu924Lys) variant of MYH7 (Myosin-7)
E924K (p.Glu924Lys) 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 MYH7-related disorder; Myosin storage myopathy; Dilated cardiomyopathy 1S. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
E924K (p.Glu924Lys) variant details
- p.Glu924Lys
- rs121913628
- ClinGen CA013034
- ClinVar RCV000015148
- ClinVar RCV000158573
- Pathogenic/Likely pathogenic
- MYH7-related disorder; Myosin storage myopathy; Dilated cardiomyopathy 1S
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.80
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (MYH7-related disorder; Myosin storage myopathy; Dilated cardiomy)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Structural context available
- Cited in: Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. (PMID 12818575)
- Cited in: Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. (PMID 15358028)