G5W (p.Gly5Trp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G5W (p.Gly5Trp) 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 1; Hypertrophic cardiomyopathy; Cardiovascular pheno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G5W (p.Gly5Trp) variant details
- p.Gly5Trp
- rs201278114
- ClinGen CA277841
- ClinVar RCV000201920
- ClinVar RCV001060982
- Uncertain significance
- Hypertrophic cardiomyopathy 1; Hypertrophic cardiomyopathy; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.08
- ESM-1b 0.38
- AlphaMissense 0.46
- CADD 22.50
- PolyPhen-2 0.32
- SIFT 0.18
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 1; Hypertrophic cardiomyopathy; Card)
- EBI: Pathogenic (in CMH4)
- UniProt: Pathogenic (in CMH4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)