E98G (p.Glu98Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E98G (p.Glu98Gly) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E98G (p.Glu98Gly) variant details
- p.Glu98Gly
- rs2495783963
- ClinGen CA380341245
- ClinVar RCV002440141
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.7e-05)
- Structural context available