L23F (p.Leu23Phe) variant of APC (Adenomatous polyposis coli protein)
L23F (p.Leu23Phe) 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 0.98 / 1. The record also includes structural context.
L23F (p.Leu23Phe) variant details
- p.Leu23Phe
- ESP rs372367350
- ExAC rs372367350
- TOPMed rs372367350
- gnomAD rs372367350
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- ESM-1b 1.00
- AlphaMissense 0.96
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available