E70G (p.Glu70Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E70G (p.Glu70Gly) 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 0.25 / 1. The record also includes structural context.
E70G (p.Glu70Gly) variant details
- p.Glu70Gly
- rs2142869503
- ClinGen CA380341713
- ClinVar RCV001972975
- Ensembl rs2142869503
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- ESM-1b 0.00
- AlphaMissense 0.23
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available