D51H (p.Asp51His) variant of AIP (AH receptor-interacting protein)
D51H (p.Asp51His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
D51H (p.Asp51His) variant details
- p.Asp51His
- rs1591042638
- ClinGen CA381546617
- ClinVar RCV002392403
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.94
- MetaLR 0.87
- MetaSVM 0.98
- SIFT 0.02
- MutPred 0.92
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)