R1500W (p.Arg1500Trp) variant of MYH7 (Myosin-7)
R1500W (p.Arg1500Trp) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital myopathy with fiber type disproportion; MYH7-related skeletal myopath. 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.
R1500W (p.Arg1500Trp) variant details
- p.Arg1500Trp
- rs45544633
- ClinGen CA015030
- NCI-TCGA Cosmic COSV6251
- ClinVar RCV000151238
- Pathogenic/Likely pathogenic
- Congenital myopathy with fiber type disproportion; MYH7-related skeletal myopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.84
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Congenital myopathy with fiber type disproportion; MYH7-related)
- EBI: Pathogenic (in MPD1)
- UniProt: Pathogenic (in MPD1)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)