F28L (p.Phe28Leu) variant of AIP (AH receptor-interacting protein)
F28L (p.Phe28Leu) 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 record also includes published literature and structural context.
F28L (p.Phe28Leu) variant details
- p.Phe28Leu
- rs2495387951
- ClinGen CA381545862
- ClinVar RCV003172579
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)