E96G (p.Glu96Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E96G (p.Glu96Gly) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E96G (p.Glu96Gly) variant details
- p.Glu96Gly
- ExAC rs777170653
- gnomAD rs777170653
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 24.50
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available