E794D (p.Glu794Asp) variant of MUSK (O15146)
E794D (p.Glu794Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E794D (p.Glu794Asp) variant details
- p.Glu794Asp
- rs756877019
- ClinGen CA339639
- ClinVar RCV000202616
- ExAC rs756877019
- Likely pathogenic
- Congenital myasthenic syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.94
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital myasthenic syndrome 9)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)