R24Q (p.Arg24Gln) variant of APC (Adenomatous polyposis coli protein)
R24Q (p.Arg24Gln) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- rs878853469
- ClinGen CA10582272
- cosmic curated COSV99074
- ClinVar RCV003998687
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.56
- MetaLR 0.15
- MetaSVM -0.92
- CADD 29.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)