I9V (p.Ile9Val) variant of CTNNA1 (Catenin alpha-1)
I9V (p.Ile9Val) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
I9V (p.Ile9Val) variant details
- p.Ile9Val
- rs1035752743
- ClinGen CA128716439
- ClinVar RCV000802612
- ClinVar RCV002424857
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.08
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)