E14V (p.Glu14Val) variant of APC (Adenomatous polyposis coli protein)
E14V (p.Glu14Val) 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 0.50 / 1. The record also includes published literature and structural context.
E14V (p.Glu14Val) variant details
- p.Glu14Val
- rs2149737706
- ClinGen CA16021430
- ClinVar RCV003463400
- Ensembl rs2149737706
- Uncertain significance
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.08
- MetaSVM -1.07
- PolyPhen-2 0.99
- SIFT 0.00
- 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)