Y55C (p.Tyr55Cys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
Y55C (p.Tyr55Cys) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
Y55C (p.Tyr55Cys) variant details
- p.Tyr55Cys
- rs2495786214
- ClinGen CA380341796
- ClinVar RCV002297125
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- ESM-1b 1.00
- AlphaMissense 0.94
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available