F46L (p.Phe46Leu) variant of MYH7 (Myosin-7)
F46L (p.Phe46Leu) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- rs1893036458
- ClinGen CA389053784
- ClinVar RCV002045919
- ClinVar RCV004011146
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.55
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)