R54L (p.Arg54Leu) variant of MYH7 (Myosin-7)
R54L (p.Arg54Leu) 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; Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R54L (p.Arg54Leu) variant details
- p.Arg54Leu
- rs397516117
- ClinGen CA028998
- ClinVar RCV000770504
- ClinVar RCV002533965
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.63
- MetaSVM 0.23
- CADD 27.00
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)