G46D (p.Gly46Asp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G46D (p.Gly46Asp) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- rs2095900834
- ClinGen CA380341857
- ClinVar RCV003168178
- ClinVar RCV004808450
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.33
- ESM-1b 0.25
- AlphaMissense 0.21
- CADD 23.60
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available