S1403N (p.Ser1403Asn) variant of APC (Adenomatous polyposis coli protein)
S1403N (p.Ser1403Asn) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial adenomatous polyposis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
S1403N (p.Ser1403Asn) variant details
- p.Ser1403Asn
- cosmic curated COSV10443
- ExAC rs769483181
- gnomAD rs769483181
- Likely pathogenic
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- ESM-1b 0.61
- AlphaMissense 0.88
- ClinVar: Likely pathogenic (Familial adenomatous polyposis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available