F90L (p.Phe90Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
F90L (p.Phe90Leu) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F90L (p.Phe90Leu) variant details
- p.Phe90Leu
- rs367990952
- ClinGen CA012859
- ClinVar RCV000171196
- ESP rs367990952
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available