T2A (p.Thr2Ala) variant of CTNNA1 (Catenin alpha-1)
T2A (p.Thr2Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- rs1248704890
- ClinGen CA361477025
- ClinVar RCV001362815
- ClinVar RCV002341766
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.08
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)