M18V (p.Met18Val) variant of APC (Adenomatous polyposis coli protein)
M18V (p.Met18Val) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
M18V (p.Met18Val) variant details
- p.Met18Val
- rs587782402
- ClinGen CA010033
- ClinVar RCV000131435
- ClinVar RCV000502641
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.06
- MetaSVM -1.07
- CADD 23.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)