E60K (p.Glu60Lys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E60K (p.Glu60Lys) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- gnomAD rs1410935154
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- ESM-1b 0.00
- AlphaMissense 0.25
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available