I77T (p.Ile77Thr) variant of MUSK (O15146)
I77T (p.Ile77Thr) 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; Inborn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I77T (p.Ile77Thr) variant details
- p.Ile77Thr
- rs547322569
- ClinGen CA5183969
- ClinVar RCV002040882
- ClinVar RCV002548857
- Uncertain significance
- Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9; Inborn
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.15
- MetaLR 0.26
- MetaSVM -0.69
- CADD 22.20
- PolyPhen-2 0.19
- SIFT 0.37
- 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)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)