I4M (p.Ile4Met) variant of AIP (AH receptor-interacting protein)
I4M (p.Ile4Met) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I4M (p.Ile4Met) variant details
- p.Ile4Met
- rs756870384
- ClinGen CA6140667
- ClinVar RCV001010848
- ClinVar RCV001038473
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.17
- MetaLR 0.59
- MetaSVM -0.34
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)