R23W (p.Arg23Trp) variant of MYH7 (Myosin-7)
R23W (p.Arg23Trp) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myosin storage myopathy; MYH7-related skeletal myopathy; Hypertrophic cardiomyop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R23W (p.Arg23Trp) variant details
- p.Arg23Trp
- rs730880828
- ClinGen CA016626
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6251
- Uncertain significance
- Myosin storage myopathy; MYH7-related skeletal myopathy; Hypertrophic cardiomyop
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.79
- MetaSVM 0.70
- CADD 27.10
- ClinVar: Uncertain significance (Myosin storage myopathy; MYH7-related skeletal myopathy; Hypertr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.6e-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)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)