E46K (p.Glu46Lys) variant of AIP (AH receptor-interacting protein)
E46K (p.Glu46Lys) 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 Somatotroph adenoma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs772580337
- ClinGen CA6140735
- ClinVar RCV001011180
- ClinVar RCV002549337
- Uncertain significance
- Somatotroph adenoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.64
- MetaLR 0.79
- MetaSVM 0.67
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.05
- ClinVar: Uncertain significance (Somatotroph adenoma; Hereditary cancer-predisposing syndrome; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)