R54W (p.Arg54Trp) variant of AIP (AH receptor-interacting protein)
R54W (p.Arg54Trp) 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 not provided; Hereditary cancer-predisposing syndrome; Somatotroph adenoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R54W (p.Arg54Trp) variant details
- p.Arg54Trp
- rs752553438
- ClinGen CA6140741
- NCI-TCGA Cosmic COSV5416
- ClinVar RCV001012406
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Somatotroph adenoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.46
- MetaLR 0.79
- MetaSVM 0.42
- CADD 23.50
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; 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)