Y54H (p.Tyr54His) variant of MUSK (O15146)
Y54H (p.Tyr54His) 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.
Y54H (p.Tyr54His) variant details
- p.Tyr54His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.27
- MetaSVM -0.70
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available