Q19R (p.Gln19Arg) variant of AIP (AH receptor-interacting protein)
Q19R (p.Gln19Arg) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- rs2134247725
- ClinGen CA381545811
- ClinVar RCV001894859
- ClinVar RCV002343929
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.07
- MetaLR 0.47
- MetaSVM -0.50
- SIFT 0.01
- MutPred 0.28
- ClinVar: Uncertain significance (not provided; 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)