R54Q (p.Arg54Gln) variant of AIP (AH receptor-interacting protein)
R54Q (p.Arg54Gln) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs762938281
- ClinGen CA6140742
- ClinVar RCV001012458
- ClinVar RCV001241503
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Somatotroph adenoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.51
- MetaLR 0.79
- MetaSVM 0.67
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Somatotro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)