R54H (p.Arg54His) variant of CTNNA1 (Catenin alpha-1)
R54H (p.Arg54His) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Patterned macular dystrophy 2; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R54H (p.Arg54His) variant details
- p.Arg54His
- rs746153198
- ClinGen CA3431368
- ClinVar RCV001059776
- ClinVar RCV002402428
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Patterned macular dystrophy 2; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.26
- CADD 23.80
- PolyPhen-2 0.13
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Patterned macular dystr)
- EBI: Likely benign (in MDPT2)
- UniProt: Likely benign (in MDPT2)
- Most common in the South Asian population (allele frequency 3.5e-05)
- 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)