Q29K (p.Gln29Lys) variant of AIP (AH receptor-interacting protein)
Q29K (p.Gln29Lys) 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 0.42 / 1. The record also includes published literature and structural context.
Q29K (p.Gln29Lys) variant details
- p.Gln29Lys
- rs969013352
- ClinGen CA381545869
- ClinVar RCV003341896
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.11
- MetaLR 0.31
- MetaSVM -0.87
- SIFT 0.47
- MutPred 0.23
- 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)