R44H (p.Arg44His) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R44H (p.Arg44His) 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; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R44H (p.Arg44His) variant details
- p.Arg44His
- rs369205562
- ClinGen CA010081
- ClinVar RCV000158188
- ClinVar RCV000699945
- Uncertain significance
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 23.40
- PolyPhen-2 0.95
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Cardiomyopathy)
- 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)