R597Q (p.Arg597Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R597Q (p.Arg597Gln) 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 MYBPC3-related cardiomyopathies; Cardiovascular phenotype; Left ventricular nonc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R597Q (p.Arg597Gln) variant details
- p.Arg597Gln
- rs727503195
- ClinGen CA011138
- ClinVar RCV000248201
- ClinVar RCV000497973
- Pathogenic/Likely pathogenic
- MYBPC3-related cardiomyopathies; Cardiovascular phenotype; Left ventricular nonc
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 35.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (MYBPC3-related cardiomyopathies; Cardiovascular phenotype; Left)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)