I18T (p.Ile18Thr) variant of AIP (AH receptor-interacting protein)
I18T (p.Ile18Thr) in AIP (AH receptor-interacting protein) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- rs773224238
- ClinGen CA6140673
- ClinVar RCV001024039
- ClinVar RCV004773232
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.60
- MetaLR 0.62
- MetaSVM 0.08
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)