M48I (p.Met48Ile) variant of MUSK (O15146)
M48I (p.Met48Ile) 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.
M48I (p.Met48Ile) variant details
- p.Met48Ile
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99504
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.12
- MetaSVM -0.98
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available