G37E (p.Gly37Glu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G37E (p.Gly37Glu) 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; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
G37E (p.Gly37Glu) variant details
- p.Gly37Glu
- rs1085307653
- ClinGen CA380341909
- ClinVar RCV000489464
- ClinVar RCV005090999
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- ESM-1b 0.92
- AlphaMissense 0.28
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available