S1385N (p.Ser1385Asn) variant of APC (Adenomatous polyposis coli protein)
S1385N (p.Ser1385Asn) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar 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 1.00 / 1. The record also includes structural context.
S1385N (p.Ser1385Asn) variant details
- p.Ser1385Asn
- Ensembl rs2149907751
- Likely pathogenic
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (Familial adenomatous polyposis 1)
- UniProt: Likely pathogenic
- Structural context available