R820Q (p.Arg820Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R820Q (p.Arg820Gln) 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; Hypertrophic cardiomyopathy 4; Left ventricular noncom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R820Q (p.Arg820Gln) variant details
- p.Arg820Gln
- rs2856655
- ClinGen CA012326
- NCI-TCGA Cosmic COSV9992
- cosmic curated COSV99920
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ventricular noncom
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.31
- MetaSVM -0.38
- CADD 27.90
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ve)
- EBI: Pathogenic (in CMH4)
- UniProt: Pathogenic (in CMH4)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left… (PMID 12628722)
- Cited in: Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in… (PMID 12951062)