E60D (p.Glu60Asp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E60D (p.Glu60Asp) 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 0.15 / 1. The record also includes population frequency data and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- rs1399076195
- ClinGen CA380341765
- ClinVar RCV004014676
- gnomAD rs1399076195
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 13.50
- PolyPhen-2 0.07
- SIFT 0.37
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available