E19A (p.Glu19Ala) variant of CTNNA1 (Catenin alpha-1)
E19A (p.Glu19Ala) 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 0.44 / 1. The record also includes published literature and structural context.
E19A (p.Glu19Ala) variant details
- p.Glu19Ala
- rs1580978110
- ClinGen CA361477141
- ClinVar RCV002347540
- ClinVar RCV003103216
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.95
- MetaLR 0.28
- MetaSVM -0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)