E43D (p.Glu43Asp) variant of MUSK (O15146)
E43D (p.Glu43Asp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
E43D (p.Glu43Asp) variant details
- p.Glu43Asp
- rs2131656584
- ClinGen CA374669918
- NCI-TCGA Cosmic COSV5189
- cosmic curated COSV51898
- Uncertain significance
- Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.22
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.60
- 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)