K5E (p.Lys5Glu) variant of MSH3 (DNA mismatch repair protein Msh3)
K5E (p.Lys5Glu) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The record also includes published literature and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- rs2546709757
- ClinGen CA360264769
- ClinVar RCV003704782
- ClinVar RCV005439153
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)