F540L (p.Phe540Leu) variant of MYH7 (Myosin-7)
F540L (p.Phe540Leu) 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; Cardiomyopathy; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
F540L (p.Phe540Leu) variant details
- p.Phe540Leu
- rs1060501443
- ClinGen CA16614425
- ClinVar RCV000475248
- ClinVar RCV001267673
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiomyopathy; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.50
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiomyopathy; Primary dilated cardio)
- 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: Cardiomyopathy, familial dilated. (PMID 16839424)