R271W (p.Arg271Trp) variant of AIP (AH receptor-interacting protein)
R271W (p.Arg271Trp) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial isolated pituitary adenoma; Hereditary cancer-predisposing syndrome; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R271W (p.Arg271Trp) variant details
- p.Arg271Trp
- rs267606579
- ClinGen CA344201
- ClinVar RCV000034109
- ClinVar RCV001852690
- Pathogenic/Likely pathogenic
- Familial isolated pituitary adenoma; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.79
- MetaLR 0.62
- MetaSVM 0.13
- CADD 24.70
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Familial isolated pituitary adenoma; Hereditary cancer-predispos)
- EBI: Pathogenic (in PITA1)
- UniProt: Pathogenic (in PITA1)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73… (PMID 17244780)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)