L34V (p.Leu34Val) variant of MUSK (O15146)
L34V (p.Leu34Val) 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.
L34V (p.Leu34Val) variant details
- p.Leu34Val
- NCI-TCGA Cosmic COSV9950
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.20
- MetaSVM -0.86
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available