F46Y (p.Phe46Tyr) variant of MYH7 (Myosin-7)
F46Y (p.Phe46Tyr) in MYH7 (Myosin-7) 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 0.42 / 1. The record also includes population frequency data and structural context.
F46Y (p.Phe46Tyr) variant details
- p.Phe46Tyr
- rs397516104
- ClinGen CA389053779
- ClinVar RCV002781115
- TOPMed rs397516104
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.77
- MetaSVM 0.67
- CADD 27.20
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available