E19K (p.Glu19Lys) variant of APC (Adenomatous polyposis coli protein)
E19K (p.Glu19Lys) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs1754786861
- ClinGen CA16021458
- cosmic curated COSV57349
- ClinVar RCV001180468
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.17
- MetaSVM -0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)