E24* (p.Glu24Ter) variant of AIP (AH receptor-interacting protein)
E24* (p.Glu24Ter) 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 0.54 / 1. The record also includes published literature and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- rs267606568
- ClinGen CA344151
- ClinVar RCV000034095
- ClinVar RCV001390426
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM 0.16
- SIFT 0.06
- MutPred 0.38
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: AIP Familial Isolated Pituitary Adenomas. (PMID 22720333)