K17R (p.Lys17Arg) variant of APC (Adenomatous polyposis coli protein)
K17R (p.Lys17Arg) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K17R (p.Lys17Arg) variant details
- p.Lys17Arg
- rs2149737817
- ClinGen CA16021448
- ClinVar RCV003776660
- Ensembl rs2149737817
- Uncertain significance
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 22.60
- SIFT 0.41
- ClinVar: Uncertain significance (Familial adenomatous polyposis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- 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)