G47S (p.Gly47Ser) variant of AIP (AH receptor-interacting protein)
G47S (p.Gly47Ser) 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; Somatotroph adenoma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- rs1462297112
- ClinGen CA381546552
- ClinVar RCV001011388
- ClinVar RCV001860664
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Somatotroph adenoma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.48
- MetaLR 0.80
- MetaSVM 0.51
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Somatotroph adenoma; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)