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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 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
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.92
- MetaLR 0.71
- MetaSVM 0.47
- PolyPhen-2 0.05
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Cardiomyopathy)
- 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)