D38E (p.Asp38Glu) variant of MUSK (O15146)
D38E (p.Asp38Glu) 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; Fetal akinesia deformation sequence 1; MUSK-re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- rs775587809
- ClinGen CA5183928
- ClinVar RCV003802057
- ClinVar RCV005407260
- Likely pathogenic
- Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1; MUSK-re
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.71
- MetaLR 0.20
- MetaSVM -0.89
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.10
- ClinVar: Likely pathogenic (Congenital myasthenic syndrome 9; Fetal akinesia deformation seq)
- EBI: Pathogenic (in CMS9)
- UniProt: Pathogenic (in CMS9)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic… (PMID 24183479)
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)