N20I (p.Asn20Ile) variant of APC (Adenomatous polyposis coli protein)
N20I (p.Asn20Ile) 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 0.99 / 1. The record also includes structural context.
N20I (p.Asn20Ile) variant details
- p.Asn20Ile
- Ensembl rs2149737923
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available