G84D (p.Gly84Asp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G84D (p.Gly84Asp) 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; Hypertrophic cardiomyopathy; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G84D (p.Gly84Asp) variant details
- p.Gly84Asp
- rs569824900
- ClinGen CA050305
- ClinVar RCV000988557
- ClinVar RCV001179873
- Uncertain significance
- Hypertrophic cardiomyopathy 4; Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.61
- ESM-1b 0.05
- AlphaMissense 0.42
- CADD 26.00
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 4; Hypertrophic cardiomyopathy; Card)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)