E70A (p.Glu70Ala) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E70A (p.Glu70Ala) 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.
E70A (p.Glu70Ala) variant details
- p.Glu70Ala
- rs2142869503
- ClinGen CA380341714
- ClinVar RCV002297601
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- ESM-1b 0.00
- AlphaMissense 0.24
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available