R21S (p.Arg21Ser) variant of CTNNA1 (Catenin alpha-1)
R21S (p.Arg21Ser) 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. The record also includes published literature and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- rs1436293141
- ClinGen CA361477158
- ClinVar RCV002361568
- ClinVar RCV003565540
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)