R9L (p.Arg9Leu) variant of AIP (AH receptor-interacting protein)
R9L (p.Arg9Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- rs139459091
- ClinGen CA381545744
- ClinVar RCV002437391
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.08
- MetaLR 0.56
- MetaSVM -0.09
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)