R54Q (p.Arg54Gln) variant of MYH7 (Myosin-7)
R54Q (p.Arg54Gln) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs397516117
- ClinGen CA011076
- NCI-TCGA Cosmic COSV6251
- NCI-TCGA Cosmic COSV6252
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.63
- MetaSVM 0.23
- CADD 27.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)