F29C (p.Phe29Cys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
F29C (p.Phe29Cys) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
F29C (p.Phe29Cys) variant details
- p.Phe29Cys
- TOPMed rs2095900955
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available