R54C (p.Arg54Cys) variant of CTNNA1 (Catenin alpha-1)
R54C (p.Arg54Cys) 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 not provided; Hereditary cancer-predisposing syndrome. 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.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- rs781520852
- ClinGen CA3431367
- NCI-TCGA Cosmic COSV5707
- cosmic curated COSV57074
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.40
- CADD 25.80
- PolyPhen-2 0.87
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic (in MDPT2)
- UniProt: Pathogenic (in MDPT2)
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- Cited in: Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. (PMID 26691986)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)