R16H (p.Arg16His) variant of AIP (AH receptor-interacting protein)
R16H (p.Arg16His) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R16H (p.Arg16His) variant details
- p.Arg16His
- rs145047094
- ClinGen CA344116
- ClinVar RCV000034083
- ClinVar RCV000560928
- Conflicting interpretations
- Familial isolated pituitary adenoma; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.78
- MetaLR 0.66
- MetaSVM 0.29
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Familial isolated pituitary adenoma; Hereditary cancer-predispos)
- EBI: Likely benign (in dbSNP:rs145047094)
- UniProt: Likely benign (in dbSNP:rs145047094)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73… (PMID 17244780)
- Cited in: Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene… (PMID 17360484)