E28K (p.Glu28Lys) variant of APC (Adenomatous polyposis coli protein)
E28K (p.Glu28Lys) 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.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs1754792844
- ClinGen CA16021515
- cosmic curated COSV57383
- ClinVar RCV003770895
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.08
- PolyPhen-2 0.71
- SIFT 0.53
- 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)