V44A (p.Val44Ala) variant of MUSK (O15146)
V44A (p.Val44Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- rs2076148894
- ClinGen CA374669933
- ClinVar RCV001166345
- Ensembl rs2076148894
- Uncertain significance
- Congenital myasthenic syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.21
- MetaLR 0.14
- MetaSVM -0.96
- PolyPhen-2 0.41
- SIFT 0.20
- MutPred 0.41
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)