D51V (p.Asp51Val) variant of AIP (AH receptor-interacting protein)
D51V (p.Asp51Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D51V (p.Asp51Val) variant details
- p.Asp51Val
- rs2134251103
- ClinGen CA381546625
- ClinVar RCV001995303
- ClinVar RCV002398030
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.97
- MetaLR 0.86
- MetaSVM 0.95
- SIFT 0.00
- MutPred 0.90
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)