F46I (p.Phe46Ile) variant of MYH7 (Myosin-7)
F46I (p.Phe46Ile) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myopathy, myosin storage, autosomal recessive; MYH7-related skeletal myopathy; M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
F46I (p.Phe46Ile) variant details
- p.Phe46Ile
- rs1893036458
- ClinGen CA389053785
- ClinVar RCV001171225
- Ensembl rs1893036458
- Uncertain significance
- Myopathy, myosin storage, autosomal recessive; MYH7-related skeletal myopathy; M
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.65
- MetaSVM 0.30
- CADD 25.00
- ClinVar: Uncertain significance (Myopathy, myosin storage, autosomal recessive; MYH7-related skel)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)