D11Y (p.Asp11Tyr) variant of AIP (AH receptor-interacting protein)
D11Y (p.Asp11Tyr) 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 0.55 / 1. The record also includes published literature and structural context.
D11Y (p.Asp11Tyr) variant details
- p.Asp11Tyr
- rs1865726390
- ClinGen CA381545757
- ClinVar RCV003306736
- ClinVar RCV006472306
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- AlphaMissense 0.13
- MetaLR 0.63
- MetaSVM 0.37
- SIFT 0.03
- MutPred 0.46
- 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)