R22R (p.Arg22Arg) variant of AIP (AH receptor-interacting protein)
R22R (p.Arg22Arg) in AIP (AH receptor-interacting protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R22R (p.Arg22Arg) variant details
- p.Arg22Arg
- rs121908357
- gnomAD 11-67483222-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 13.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: AIP Familial Isolated Pituitary Adenomas. (PMID 22720333)
- Cited in: Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with… (PMID 17299063)