D27E (p.Asp27Glu) variant of AIP (AH receptor-interacting protein)
D27E (p.Asp27Glu) 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.
D27E (p.Asp27Glu) variant details
- p.Asp27Glu
- rs2495387947
- ClinGen CA381545859
- ClinVar RCV003172588
- 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)