L15M (p.Leu15Met) variant of MUSK (O15146)
L15M (p.Leu15Met) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- rs746254848
- ClinGen CA5183895
- ClinVar RCV001361316
- ClinVar RCV005634106
- Uncertain significance
- Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.34
- MetaLR 0.36
- MetaSVM -0.50
- CADD 23.90
- PolyPhen-2 0.76
- SIFT 0.04
- ClinVar: Uncertain significance (Fetal akinesia deformation sequence 1; Congenital myasthenic syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)