A2G (p.Ala2Gly) variant of APC (Adenomatous polyposis coli protein)
A2G (p.Ala2Gly) 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 0.42 / 1. The record also includes published literature and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs2149737216
- ClinGen CA16021347
- ClinVar RCV001525186
- Ensembl rs2149737216
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.60
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)