R17W (p.Arg17Trp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R17W (p.Arg17Trp) 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 not specified; Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R17W (p.Arg17Trp) variant details
- p.Arg17Trp
- rs747857800
- ClinGen CA055562
- cosmic curated COSV99909
- ClinVar RCV000520274
- Uncertain significance
- not specified; Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Hypertrophic cardiomyopathy; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)