R9Q (p.Arg9Gln) variant of AIP (AH receptor-interacting protein)
R9Q (p.Arg9Gln) 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 Acroleukopathy, symmetric; Pituitary dependent hypercortisolism; Somatotroph ade. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- rs139459091
- ClinGen CA6140668
- ClinVar RCV000561910
- ClinVar RCV000765005
- Conflicting interpretations
- Acroleukopathy, symmetric; Pituitary dependent hypercortisolism; Somatotroph ade
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- AlphaMissense 0.08
- MetaLR 0.56
- MetaSVM -0.09
- CADD 23.20
- PolyPhen-2 0.02
- ClinVar: Conflicting classifications of pathogenicity (Acroleukopathy, symmetric; Pituitary dependent hypercortisolism;)
- 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)