L23I (p.Leu23Ile) variant of APC (Adenomatous polyposis coli protein)
L23I (p.Leu23Ile) 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 0.21 / 1. The record also includes structural context.
L23I (p.Leu23Ile) variant details
- p.Leu23Ile
- NCI-TCGA Cosmic COSV5734
- cosmic curated COSV57344
- ESP rs372367350
- ExAC rs372367350
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.81
- MetaLR 0.15
- MetaSVM -0.91
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available