Q8* (p.Gln8Ter) variant of APC (Adenomatous polyposis coli protein)
Q8* (p.Gln8Ter) in APC (Adenomatous polyposis coli protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
Q8* (p.Gln8Ter) variant details
- p.Gln8Ter
- rs1554067110
- ClinGen CA16021383
- ClinVar RCV000566225
- Ensembl rs1554067110
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.13
- MetaLR 0.17
- MetaSVM -0.85
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.16
- 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)