A2S (p.Ala2Ser) variant of APC (Adenomatous polyposis coli protein)
A2S (p.Ala2Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- 1000Genomes rs569523442
- ExAC rs569523442
- gnomAD rs569523442
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- ESM-1b 0.00
- AlphaMissense 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available