Q29E (p.Gln29Glu) variant of AIP (AH receptor-interacting protein)
Q29E (p.Gln29Glu) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q29E (p.Gln29Glu) variant details
- p.Gln29Glu
- rs969013352
- ClinGen CA224161053
- ClinVar RCV002447980
- ClinVar RCV005058545
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.16
- AlphaMissense 0.11
- MetaLR 0.31
- MetaSVM -0.87
- CADD 6.17
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)