E35K (p.Glu35Lys) variant of MUSK (O15146)
E35K (p.Glu35Lys) in MUSK (O15146) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs1485024100
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99505
- Ensembl rs1485024100
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- AlphaMissense 0.29
- MetaLR 0.30
- MetaSVM -0.46
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.49
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available