E30A (p.Glu30Ala) variant of CTNNA1 (Catenin alpha-1)
E30A (p.Glu30Ala) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E30A (p.Glu30Ala) variant details
- p.Glu30Ala
- rs763858194
- ClinGen CA3431335
- ClinVar RCV000792870
- ClinVar RCV004609525
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.43
- CADD 25.40
- PolyPhen-2 0.52
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-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)