R74Q (p.Arg74Gln) variant of MUSK (O15146)
R74Q (p.Arg74Gln) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- rs758118087
- ClinGen CA5183966
- cosmic curated COSV51886
- ClinVar RCV001927832
- Uncertain significance
- Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.43
- MetaLR 0.30
- MetaSVM -0.55
- CADD 32.00
- PolyPhen-2 0.99
- 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 Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)