A34T (p.Ala34Thr) variant of AIP (AH receptor-interacting protein)
A34T (p.Ala34Thr) 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 0.69 / 1. The record also includes published literature and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- rs760261382
- ClinGen CA381546255
- ClinVar RCV001016982
- ExAC rs760261382
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.32
- MetaLR 0.77
- MetaSVM 0.61
- SIFT 0.14
- MutPred 0.60
- 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)