E46D (p.Glu46Asp) variant of AIP (AH receptor-interacting protein)
E46D (p.Glu46Asp) 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 0.44 / 1. The record also includes published literature and structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- rs2134251062
- ClinGen CA381546546
- NCI-TCGA Cosmic COSV9965
- ClinVar RCV001954445
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.08
- MetaLR 0.46
- MetaSVM -0.50
- SIFT 0.21
- MutPred 0.50
- 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)