R22* (p.Arg22Ter) variant of AIP (AH receptor-interacting protein)
R22* (p.Arg22Ter) in AIP (AH receptor-interacting protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R22* (p.Arg22Ter) variant details
- p.Arg22Ter
- rs121908357
- ClinGen CA340312
- ClinVar RCV000005172
- TOPMed rs121908357
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with… (PMID 17299063)
- Cited in: AIP Familial Isolated Pituitary Adenomas. (PMID 22720333)