R39Q (p.Arg39Gln) variant of AIP (AH receptor-interacting protein)
R39Q (p.Arg39Gln) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- rs139947406
- ClinGen CA6140729
- ClinVar RCV001010102
- ClinVar RCV001234957
- Uncertain significance
- Somatotroph adenoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.41
- MetaLR 0.43
- MetaSVM -0.47
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.55
- ClinVar: Uncertain significance (Somatotroph adenoma; Hereditary cancer-predisposing syndrome; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)