G23E (p.Gly23Glu) variant of AIP (AH receptor-interacting protein)
G23E (p.Gly23Glu) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Somatotroph adenoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G23E (p.Gly23Glu) variant details
- p.Gly23Glu
- rs116940576
- ClinGen CA6140674
- ClinVar RCV000304446
- ClinVar RCV000568999
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Somatotroph adenoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.82
- MetaLR 0.76
- MetaSVM 0.57
- CADD 27.10
- PolyPhen-2 0.84
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Somatotro)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)