N6S (p.Asn6Ser) variant of MUSK (O15146)
N6S (p.Asn6Ser) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N6S (p.Asn6Ser) variant details
- p.Asn6Ser
- rs747203404
- ClinGen CA5183892
- ClinVar RCV001053074
- ExAC rs747203404
- Uncertain significance
- Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.16
- MetaLR 0.22
- MetaSVM -0.61
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 0.08
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 9; Fetal akinesia deformation seq)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)