E42Q (p.Glu42Gln) variant of MUSK (O15146)
E42Q (p.Glu42Gln) in MUSK (O15146) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
E42Q (p.Glu42Gln) variant details
- p.Glu42Gln
- NCI-TCGA Cosmic COSV5188
- cosmic curated COSV51882
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.34
- MetaSVM -0.51
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available