E26Q (p.Glu26Gln) variant of APC (Adenomatous polyposis coli protein)
E26Q (p.Glu26Gln) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- rs1554067127
- ClinGen CA16021503
- ClinVar RCV000566833
- ClinVar RCV002526867
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.89
- MetaLR 0.15
- MetaSVM -0.91
- CADD 26.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- 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)