D51N (p.Asp51Asn) variant of AIP (AH receptor-interacting protein)
D51N (p.Asp51Asn) 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; Somatotroph adenoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- rs1591042638
- ClinGen CA381546614
- ClinVar RCV001011963
- ClinVar RCV001247747
- Uncertain significance
- not provided; Somatotroph adenoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.82
- AlphaMissense 0.94
- MetaLR 0.87
- MetaSVM 0.98
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Somatotroph adenoma; Hereditary cancer-predisposin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)