A787V (p.Ala787Val) variant of MUSK (O15146)
A787V (p.Ala787Val) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital myasthenic syndrome 9. The record also includes published literature and structural context.
A787V (p.Ala787Val) variant details
- p.Ala787Val
- rs2491213298
- ClinGen CA374479454
- ClinVar RCV002285227
- Likely pathogenic
- Congenital myasthenic syndrome 9
- Missense
- ClinVar: Likely pathogenic (Congenital myasthenic syndrome 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)