D91Y (p.Asp91Tyr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
D91Y (p.Asp91Tyr) 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 0.57 / 1. The record also includes population frequency data and structural context.
D91Y (p.Asp91Tyr) variant details
- p.Asp91Tyr
- ExAC rs778851720
- TOPMed rs778851720
- gnomAD rs778851720
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.32
- ESM-1b 0.97
- AlphaMissense 0.55
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available