D27A (p.Asp27Ala) variant of AIP (AH receptor-interacting protein)
D27A (p.Asp27Ala) 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 0.45 / 1. The record also includes published literature and structural context.
D27A (p.Asp27Ala) variant details
- p.Asp27Ala
- rs1865728223
- ClinGen CA381545856
- ClinVar RCV002419473
- ClinVar RCV003574939
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- AlphaMissense 0.07
- MetaLR 0.47
- MetaSVM -0.67
- SIFT 0.28
- MutPred 0.28
- 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)