M1T (p.Met1Thr) variant of MUSK (O15146)
M1T (p.Met1Thr) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1; not pro. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1416057660
- ClinGen CA374667961
- ClinVar RCV003796367
- ClinVar RCV005001446
- Pathogenic
- Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1; not pro
- Missense
- MetaLR 0.55
- MetaSVM 0.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Congenital myasthenic syndrome 9; Fetal akinesia deformation seq)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)