Q25R (p.Gln25Arg) variant of APC (Adenomatous polyposis coli protein)
Q25R (p.Gln25Arg) in APC (Adenomatous polyposis coli 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; Desmoid disease, hereditary; Familial a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q25R (p.Gln25Arg) variant details
- p.Gln25Arg
- rs876658408
- ClinGen CA10578281
- ClinVar RCV000220479
- Ensembl rs876658408
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Desmoid disease, hereditary; Familial a
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.11
- MetaSVM -0.94
- CADD 22.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Desmoid disease, heredi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)