R52G (p.Arg52Gly) variant of CTNNA1 (Catenin alpha-1)
R52G (p.Arg52Gly) 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.
R52G (p.Arg52Gly) variant details
- p.Arg52Gly
- rs2532178209
- ClinGen CA361477364
- ClinVar RCV002403329
- ClinVar RCV003100716
- 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)