R39W (p.Arg39Trp) variant of AIP (AH receptor-interacting protein)
R39W (p.Arg39Trp) 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; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R39W (p.Arg39Trp) variant details
- p.Arg39Trp
- rs781366620
- ClinGen CA6140728
- ClinVar RCV001067459
- ClinVar RCV002374981
- Uncertain significance
- Somatotroph adenoma; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.79
- AlphaMissense 0.38
- MetaLR 0.75
- MetaSVM 0.65
- CADD 29.90
- PolyPhen-2 0.94
- ClinVar: Uncertain significance (Somatotroph adenoma; not provided; Hereditary cancer-predisposin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)