A3E (p.Ala3Glu) variant of APC (Adenomatous polyposis coli protein)
A3E (p.Ala3Glu) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes published literature and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- rs2149737259
- ClinGen CA16021352
- ClinVar RCV003865487
- Uncertain significance
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.05
- MetaSVM -1.09
- PolyPhen-2 0.26
- SIFT 0.35
- ClinVar: Uncertain significance (Familial adenomatous polyposis 1)
- 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)