V219L (p.Val219Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V219L (p.Val219Leu) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V219L (p.Val219Leu) variant details
- p.Val219Leu
- rs397516068
- ClinGen CA015670
- ClinVar RCV000035660
- ClinVar RCV000158303
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.33
- MetaSVM -0.52
- CADD 25.10
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Left ventricular noncompaction 10; Hyp)
- EBI: Pathogenic (in CMH4)
- UniProt: Pathogenic (in CMH4)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. (PMID 15519027)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)