R39G (p.Arg39Gly) variant of AIP (AH receptor-interacting protein)
R39G (p.Arg39Gly) 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 0.70 / 1. The record also includes published literature and structural context.
R39G (p.Arg39Gly) variant details
- p.Arg39Gly
- rs781366620
- ClinGen CA381546389
- ClinVar RCV001297773
- ClinVar RCV002375345
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.38
- MetaLR 0.75
- MetaSVM 0.65
- SIFT 0.00
- MutPred 0.62
- 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)