R22Q (p.Arg22Gln) variant of AIP (AH receptor-interacting protein)
R22Q (p.Arg22Gln) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs2495387831
- ClinGen CA381545830
- ClinVar RCV003036486
- ClinVar RCV004070107
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.18
- MetaLR 0.39
- MetaSVM -0.80
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)