A2P (p.Ala2Pro) variant of AIP (AH receptor-interacting protein)
A2P (p.Ala2Pro) 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 0.59 / 1. The record also includes published literature and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- rs1591039762
- ClinGen CA381545620
- ClinVar RCV001023399
- ClinVar RCV003679029
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.14
- MetaLR 0.68
- MetaSVM 0.44
- SIFT 0.03
- MutPred 0.34
- 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)