G20R (p.Gly20Arg) variant of MUSK (O15146)
G20R (p.Gly20Arg) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs758427621
- ClinGen CA5183898
- NCI-TCGA Cosmic COSV5188
- cosmic curated COSV51889
- Uncertain significance
- Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.20
- MetaLR 0.21
- MetaSVM -0.80
- CADD 17.40
- PolyPhen-2 0.39
- SIFT 0.36
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 9; Fetal akinesia deformation seq)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)