P26L (p.Pro26Leu) variant of AIP (AH receptor-interacting protein)
P26L (p.Pro26Leu) 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 0.74 / 1. The record also includes published literature and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs2134247769
- ClinGen CA381545851
- ClinVar RCV003711669
- ClinVar RCV004371710
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- AlphaMissense 0.41
- MetaLR 0.81
- MetaSVM 0.75
- SIFT 0.00
- MutPred 0.74
- 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)