E22K (p.Glu22Lys) variant of MUSK (O15146)
E22K (p.Glu22Lys) 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 0.45 / 1. The record also includes population frequency data and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- NCI-TCGA Cosmic COSV5189
- cosmic curated COSV51894
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.34
- MetaLR 0.34
- MetaSVM -0.33
- CADD 23.60
- PolyPhen-2 0.17
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available