E19D (p.Glu19Asp) variant of CTNNA1 (Catenin alpha-1)
E19D (p.Glu19Asp) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- rs1755161812
- ClinGen CA361477144
- ClinVar RCV001349150
- ClinVar RCV002357200
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.33
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)