Q47Q (p.Gln47Gln) variant of FAS (P25445)
Q47Q (p.Gln47Gln) in FAS (P25445) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Q47Q (p.Gln47Gln) variant details
- p.Gln47Gln
- rs3218621
- gnomAD 10-89003139-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0847
- CADD 0.57
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Cited in: Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases. (PMID 27417569)
- Cited in: A -436C>A polymorphism in the human FAS gene promoter associated with severe childhood malaria. (PMID 21625619)