E10K (p.Glu10Lys) variant of AIP (AH receptor-interacting protein)
E10K (p.Glu10Lys) 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 record also includes published literature and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs2495387635
- ClinGen CA381545746
- ClinVar RCV002438055
- ClinVar RCV003102854
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)