R63W (p.Arg63Trp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R63W (p.Arg63Trp) 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 Cardiomyopathy; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R63W (p.Arg63Trp) variant details
- p.Arg63Trp
- rs373315466
- ClinGen CA047089
- ClinVar RCV000429655
- ClinVar RCV000800606
- Uncertain significance
- Cardiomyopathy; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 23.50
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)