A3V (p.Ala3Val) variant of APC (Adenomatous polyposis coli protein)
A3V (p.Ala3Val) 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 Classic or attenuated familial adenomatous polyposis; Hereditary cancer-predispo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs2149737259
- ClinGen CA16021354
- ClinVar RCV002376345
- ClinVar RCV004005785
- Uncertain significance
- Classic or attenuated familial adenomatous polyposis; Hereditary cancer-predispo
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.38
- MetaLR 0.55
- MetaSVM -0.27
- CADD 17.20
- ClinVar: Uncertain significance (Classic or attenuated familial adenomatous polyposis; Hereditary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- 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)