D27H (p.Asp27His) variant of AIP (AH receptor-interacting protein)
D27H (p.Asp27His) 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 Hereditary cancer-predisposing syndrome; not provided; Somatotroph adenoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D27H (p.Asp27His) variant details
- p.Asp27His
- rs1024903808
- ClinGen CA224161031
- ClinVar RCV001373355
- ClinVar RCV002420844
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Somatotroph adenoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.14
- MetaLR 0.58
- MetaSVM -0.36
- CADD 16.70
- PolyPhen-2 0.31
- SIFT 0.29
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Somatotro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)