T22I (p.Thr22Ile) variant of CTNNA1 (Catenin alpha-1)
T22I (p.Thr22Ile) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T22I (p.Thr22Ile) variant details
- p.Thr22Ile
- rs1755162650
- ClinGen CA361477164
- ClinVar RCV001884683
- ClinVar RCV005809674
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.73
- AlphaMissense 1.00
- MetaLR 0.40
- MetaSVM -0.20
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)