A2P (p.Ala2Pro) variant of APC (Adenomatous polyposis coli protein)
A2P (p.Ala2Pro) 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 0.22 / 1. The record also includes population frequency data and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- 1000Genomes rs569523442
- ExAC rs569523442
- gnomAD rs569523442
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- ESM-1b 0.00
- AlphaMissense 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available