N1012K (p.Asn1012Lys) variant of APC (Adenomatous polyposis coli protein)
N1012K (p.Asn1012Lys) 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; Colorectal cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
N1012K (p.Asn1012Lys) variant details
- p.Asn1012Lys
- rs2149882824
- ClinGen CA16027973
- ClinVar RCV003484463
- Ensembl rs2149882824
- Likely pathogenic
- Familial adenomatous polyposis 1; Colorectal cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.85
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial adenomatous polyposis 1; Colorectal cancer)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)