E24Q (p.Glu24Gln) variant of AIP (AH receptor-interacting protein)
E24Q (p.Glu24Gln) 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; Somatotroph adenoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E24Q (p.Glu24Gln) variant details
- p.Glu24Gln
- rs267606568
- ClinGen CA224160955
- ClinVar RCV001026039
- ClinVar RCV001305281
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Somatotroph adenoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.28
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM 0.16
- CADD 19.90
- PolyPhen-2 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Somatotro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)
- Cited in: AIP Familial Isolated Pituitary Adenomas. (PMID 22720333)