Q12Q (p.Gln12Gln) variant of APC (Adenomatous polyposis coli protein)
Q12Q (p.Gln12Gln) in APC (Adenomatous polyposis coli protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q12Q (p.Gln12Gln) variant details
- p.Gln12Gln
- rs864622288
- gnomAD 5-112754926-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 10.70
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Literature evidence available