E19D (p.Glu19Asp) variant of APC (Adenomatous polyposis coli protein)
E19D (p.Glu19Asp) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- rs1754787495
- ClinGen CA16021465
- cosmic curated COSV57381
- ClinVar RCV004562058
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- ESM-1b 0.65
- AlphaMissense 0.97
- MetaLR 0.15
- MetaSVM -0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- 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)