R63Q (p.Arg63Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R63Q (p.Arg63Gln) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R63Q (p.Arg63Gln) variant details
- p.Arg63Gln
- rs549239819
- ClinGen CA011393
- ClinVar RCV000802262
- ClinVar RCV001178564
- Conflicting interpretations
- Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.12
- ESM-1b 0.93
- AlphaMissense 0.15
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Left ventricular noncompaction 10; Hyp)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- 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)