M18K (p.Met18Lys) variant of APC (Adenomatous polyposis coli protein)
M18K (p.Met18Lys) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M18K (p.Met18Lys) variant details
- p.Met18Lys
- rs200960071
- ClinGen CA010386
- ClinVar RCV000034418
- ClinVar RCV000130887
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.48
- MetaLR 0.02
- MetaSVM -1.03
- CADD 20.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- 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)