R24* (p.Arg24Ter) variant of APC (Adenomatous polyposis coli protein)
R24* (p.Arg24Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R24* (p.Arg24Ter) variant details
- p.Arg24Ter
- rs145945630
- ClinGen CA012843
- NCI-TCGA Cosmic COSV5733
- cosmic curated COSV57372
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)