E19A (p.Glu19Ala) variant of APC (Adenomatous polyposis coli protein)
E19A (p.Glu19Ala) 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 0.51 / 1. The record also includes published literature and structural context.
E19A (p.Glu19Ala) variant details
- p.Glu19Ala
- rs1754787233
- ClinGen CA16021461
- cosmic curated COSV57359
- ClinVar RCV004570243
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.16
- MetaSVM -0.85
- PolyPhen-2 1.00
- SIFT 0.00
- 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)