R54* (p.Arg54Ter) variant of MYH7 (Myosin-7)
R54* (p.Arg54Ter) in MYH7 (Myosin-7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R54* (p.Arg54Ter) variant details
- p.Arg54Ter
- rs761841748
- ClinGen CA257826887
- NCI-TCGA Cosmic COSV6252
- ClinVar RCV001228344
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 41.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)