K33T (p.Lys33Thr) variant of AIP (AH receptor-interacting protein)
K33T (p.Lys33Thr) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
K33T (p.Lys33Thr) variant details
- p.Lys33Thr
- rs1865728964
- ClinGen CA381545896
- ClinVar RCV002387442
- ClinVar RCV003774220
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.91
- MetaLR 0.55
- MetaSVM 0.16
- SIFT 0.00
- MutPred 0.52
- ClinVar: Uncertain significance (not provided; 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)