I4T (p.Ile4Thr) variant of AIP (AH receptor-interacting protein)
I4T (p.Ile4Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I4T (p.Ile4Thr) variant details
- p.Ile4Thr
- rs1865725940
- ClinGen CA381545667
- ClinVar RCV003010287
- ClinVar RCV004617151
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 0.13
- MetaLR 0.56
- MetaSVM -0.43
- SIFT 0.36
- MutPred 0.35
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)