Q12* (p.Gln12Ter) variant of APC (Adenomatous polyposis coli protein)
Q12* (p.Gln12Ter) in APC (Adenomatous polyposis coli protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- rs2149737617
- ClinGen CA16021413
- ClinVar RCV004574292
- Ensembl rs2149737617
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.81
- MetaLR 0.17
- MetaSVM -0.85
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.28
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)