E98Q (p.Glu98Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E98Q (p.Glu98Gln) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
E98Q (p.Glu98Gln) variant details
- p.Glu98Gln
- rs868819340
- ClinGen CA16613414
- ClinVar RCV000468949
- ClinVar RCV001549952
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- ESM-1b 0.00
- AlphaMissense 0.15
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided; Cardiovascular phenot)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available