E1914K (p.Glu1914Lys) variant of MYH7 (Myosin-7)
E1914K (p.Glu1914Lys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
E1914K (p.Glu1914Lys) variant details
- p.Glu1914Lys
- rs397516254
- ClinGen CA016441
- ClinVar RCV000035983
- ClinVar RCV000132760
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.91
- MetaLR 0.81
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)