P28L (p.Pro28Leu) variant of MUSK (O15146)
P28L (p.Pro28Leu) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1. The record also includes published literature and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs2490566494
- ClinGen CA374669673
- ClinVar RCV002909253
- Uncertain significance
- Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1
- Missense
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 9; Fetal akinesia deformation seq)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)