L40S (p.Leu40Ser) variant of MUSK (O15146)
L40S (p.Leu40Ser) 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; Inborn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L40S (p.Leu40Ser) variant details
- p.Leu40Ser
- rs901935734
- ClinGen CA198335371
- ClinVar RCV002776209
- ClinVar RCV004948777
- Uncertain significance
- Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1; Inborn
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -0.96
- CADD 24.20
- PolyPhen-2 0.22
- SIFT 0.09
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 9; Fetal akinesia deformation seq)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)