G77E (p.Gly77Glu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
G77E (p.Gly77Glu) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
G77E (p.Gly77Glu) variant details
- p.Gly77Glu
- rs730880580
- ClinGen CA012059
- ClinVar RCV000158199
- ClinVar RCV003998348
- Conflicting interpretations
- not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- ESM-1b 1.00
- AlphaMissense 0.68
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available