E30D (p.Glu30Asp) variant of CTNNA1 (Catenin alpha-1)
E30D (p.Glu30Asp) 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; Hereditary nonpolyposis c. 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.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- rs1755165264
- ClinGen CA361477215
- ClinVar RCV001248702
- ClinVar RCV003294158
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Hereditary nonpolyposis c
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.33
- CADD 23.50
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)