R69Q (p.Arg69Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R69Q (p.Arg69Gln) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R69Q (p.Arg69Gln) variant details
- p.Arg69Gln
- rs397515945
- ClinGen CA011710
- ClinVar RCV000035462
- ClinVar RCV000208106
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- 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: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)