E96Q (p.Glu96Gln) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E96Q (p.Glu96Gln) 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; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E96Q (p.Glu96Gln) variant details
- p.Glu96Gln
- rs1011673088
- ClinGen CA221708491
- ClinVar RCV001190120
- ClinVar RCV002560075
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.06
- ESM-1b 0.84
- AlphaMissense 0.18
- CADD 22.70
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)