T32N (p.Thr32Asn) variant of AIP (AH receptor-interacting protein)
T32N (p.Thr32Asn) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T32N (p.Thr32Asn) variant details
- p.Thr32Asn
- rs1249018718
- ClinGen CA381545891
- ClinVar RCV002374349
- ClinVar RCV003565546
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.54
- MetaLR 0.65
- MetaSVM 0.35
- CADD 24.90
- PolyPhen-2 0.73
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)