T32I (p.Thr32Ile) variant of AIP (AH receptor-interacting protein)
T32I (p.Thr32Ile) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T32I (p.Thr32Ile) variant details
- p.Thr32Ile
- rs1249018718
- ClinGen CA381545892
- ClinVar RCV002385286
- ClinVar RCV003718575
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.68
- MetaLR 0.73
- MetaSVM 0.56
- CADD 25.60
- SIFT 0.50
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)