W792R (p.Trp792Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
W792R (p.Trp792Arg) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
W792R (p.Trp792Arg) variant details
- p.Trp792Arg
- rs187830361
- ClinGen CA380318738
- ClinVar RCV000701680
- ESP rs187830361
- Likely pathogenic
- Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.89
- CADD 26.50
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy)
- EBI: Pathogenic (in CMH4)
- UniProt: Pathogenic (in CMH4)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. (PMID 15519027)
- Cited in: Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding… (PMID 11499718)