R44C (p.Arg44Cys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R44C (p.Arg44Cys) 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 Hypertrophic cardiomyopathy; Cardiomyopathy; not provided. 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.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs557439091
- ClinGen CA044213
- ClinVar RCV001180941
- ClinVar RCV001751322
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.28
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)