G47D (p.Gly47Asp) variant of AIP (AH receptor-interacting protein)
G47D (p.Gly47Asp) 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.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- rs1164577485
- ClinGen CA381546558
- ClinVar RCV001931463
- ClinVar RCV002388874
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Somatotroph adenoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.45
- AlphaMissense 0.11
- MetaLR 0.80
- MetaSVM 0.38
- CADD 19.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Somatotro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)