A45P (p.Ala45Pro) variant of MUSK (O15146)
A45P (p.Ala45Pro) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A45P (p.Ala45Pro) variant details
- p.Ala45Pro
- rs763800237
- ClinGen CA5183930
- ClinVar RCV001872649
- ExAC rs763800237
- Uncertain significance
- Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.55
- MetaLR 0.39
- MetaSVM -0.08
- CADD 28.20
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Fetal akinesia deformation sequence 1; Congenital myasthenic syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)