T73I (p.Thr73Ile) variant of MUSK (O15146)
T73I (p.Thr73Ile) 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 0.42 / 1. The record also includes published literature and structural context.
T73I (p.Thr73Ile) variant details
- p.Thr73Ile
- rs750101214
- ClinGen CA374664190
- ClinVar RCV000653235
- ExAC rs750101214
- Uncertain significance
- Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- AlphaMissense 0.56
- MetaLR 0.20
- MetaSVM -0.84
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.54
- ClinVar: Uncertain significance (Fetal akinesia deformation sequence 1; Congenital myasthenic syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)