K11N (p.Lys11Asn) variant of APC (Adenomatous polyposis coli protein)
K11N (p.Lys11Asn) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K11N (p.Lys11Asn) variant details
- p.Lys11Asn
- rs2149737598
- Ensembl rs2149737598
- ClinGen CA16021410
- ClinVar RCV002452062
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.07
- MetaSVM -1.03
- CADD 26.40
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)