E96V (p.Glu96Val) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E96V (p.Glu96Val) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E96V (p.Glu96Val) variant details
- p.Glu96Val
- ExAC rs777170653
- gnomAD rs777170653
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.31
- ESM-1b 0.80
- AlphaMissense 0.39
- CADD 24.30
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available