E930Q (p.Glu930Gln) variant of MYH7 (Myosin-7)
E930Q (p.Glu930Gln) 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 Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Congenital myopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
E930Q (p.Glu930Gln) variant details
- p.Glu930Gln
- rs397516171
- ClinGen CA013084
- ClinVar RCV000158575
- ClinVar RCV000515259
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Congenital myopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.47
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Congenit)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)