I13N (p.Ile13Asn) variant of AIP (AH receptor-interacting protein)
I13N (p.Ile13Asn) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I13N (p.Ile13Asn) variant details
- p.Ile13Asn
- rs376913545
- ClinGen CA6140671
- ClinVar RCV001906995
- ClinVar RCV002359402
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.94
- MetaLR 0.84
- MetaSVM 0.86
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- 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 0.00015)
- 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)