E34A (p.Glu34Ala) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E34A (p.Glu34Ala) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
E34A (p.Glu34Ala) variant details
- p.Glu34Ala
- Ensembl rs2095900921
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- ESM-1b 0.00
- AlphaMissense 0.22
- Structural context available