S1421N (p.Ser1421Asn) variant of APC (Adenomatous polyposis coli protein)
S1421N (p.Ser1421Asn) 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 0.89 / 1. The record also includes published literature and structural context.
S1421N (p.Ser1421Asn) variant details
- p.Ser1421Asn
- rs2149910251
- ClinGen CA16030668
- NCI-TCGA Cosmic COSV5733
- cosmic curated COSV57334
- Likely pathogenic
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial adenomatous polyposis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)