D75E (p.Asp75Glu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
D75E (p.Asp75Glu) 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 0.57 / 1. The record also includes population frequency data and structural context.
D75E (p.Asp75Glu) variant details
- p.Asp75Glu
- rs1395765226
- ClinGen CA380341680
- ClinVar RCV002049921
- gnomAD rs1395765226
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available