R9W (p.Arg9Trp) variant of AIP (AH receptor-interacting protein)
R9W (p.Arg9Trp) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs1057523115
- ClinGen CA16606984
- ClinVar RCV000427560
- ClinVar RCV002436328
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.42
- MetaLR 0.60
- MetaSVM 0.13
- CADD 25.80
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)