R35W (p.Arg35Trp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R35W (p.Arg35Trp) 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 4; Left ventricular noncompaction 10; Cardiovascular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- rs727504249
- ClinGen CA009726
- ClinVar RCV001183966
- ClinVar RCV001367394
- Uncertain significance
- Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10; Cardiovascular
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.36
- CADD 26.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- 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)