R54G (p.Arg54Gly) variant of CTNNA1 (Catenin alpha-1)
R54G (p.Arg54Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- rs781520852
- ClinGen CA128716555
- ClinVar RCV001040736
- ClinVar RCV002400241
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.41
- CADD 24.20
- PolyPhen-2 0.45
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance (in MDPT2)
- UniProt: Uncertain significance (in MDPT2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)