Q14* (p.Gln14Ter) variant of AIP (AH receptor-interacting protein)
Q14* (p.Gln14Ter) 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.
Q14* (p.Gln14Ter) variant details
- p.Gln14Ter
- rs104894194
- ClinGen CA117122
- ClinVar RCV000005163
- ClinVar RCV000508640
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Pituitary adenoma predisposition caused by germline mutations in the AIP gene. (PMID 16728643)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)