A4P (p.Ala4Pro) variant of APC (Adenomatous polyposis coli protein)
A4P (p.Ala4Pro) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- rs774219012
- ClinGen CA026700
- ClinVar RCV000677758
- ClinVar RCV001017299
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.54
- MetaLR 0.14
- MetaSVM -0.96
- CADD 28.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)