E28G (p.Glu28Gly) variant of APC (Adenomatous polyposis coli protein)
E28G (p.Glu28Gly) 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 0.25 / 1. The record also includes published literature and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- rs1754793089
- ClinGen CA16021519
- ClinVar RCV002553860
- ClinVar RCV005453154
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- ESM-1b 0.00
- AlphaMissense 0.48
- MetaLR 0.12
- MetaSVM -0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)