F46C (p.Phe46Cys) variant of MYH7 (Myosin-7)
F46C (p.Phe46Cys) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
F46C (p.Phe46Cys) variant details
- p.Phe46Cys
- rs397516104
- ClinGen CA010662
- ClinVar RCV000035721
- ClinVar RCV000770505
- Uncertain significance
- Cardiomyopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.11
- MetaLR 0.18
- MetaSVM -0.89
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.06
- ClinVar: Uncertain significance (Cardiomyopathy; not specified)
- 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)