E60G (p.Glu60Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E60G (p.Glu60Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E60G (p.Glu60Gly) variant details
- p.Glu60Gly
- rs2495786167
- ClinGen CA380341767
- ClinVar RCV004008150
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 25.60
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available