M18I (p.Met18Ile) variant of APC (Adenomatous polyposis coli protein)
M18I (p.Met18Ile) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M18I (p.Met18Ile) variant details
- p.Met18Ile
- rs772873692
- ExAC rs772873692
- gnomAD rs772873692
- ClinGen CA042134
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.65
- MetaLR 0.07
- MetaSVM -1.04
- CADD 26.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- 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)