E542Q (p.Glu542Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E542Q (p.Glu542Gln) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Left ventricular noncompaction 10; Primary familial hy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E542Q (p.Glu542Gln) variant details
- p.Glu542Gln
- rs121909374
- ClinGen CA010806
- ClinVar RCV000009139
- ClinVar RCV000035424
- Pathogenic
- Cardiovascular phenotype; Left ventricular noncompaction 10; Primary familial hy
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.36
- MetaSVM 0.03
- CADD 25.80
- ClinVar: Pathogenic (Cardiovascular phenotype; Left ventricular noncompaction 10; Pri)
- EBI: Pathogenic (in CMH4)
- UniProt: Pathogenic (in CMH4)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. (PMID 15519027)