E26K (p.Glu26Lys) variant of CTNNA1 (Catenin alpha-1)
E26K (p.Glu26Lys) in CTNNA1 (Catenin alpha-1) 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.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- rs2532170810
- ClinGen CA361477182
- ClinVar RCV003181629
- ClinVar RCV006473791
- 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)