Q43Q (p.Gln43Gln) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
Q43Q (p.Gln43Gln) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q43Q (p.Gln43Gln) variant details
- p.Gln43Gln
- rs976913804
- gnomAD 14-61697862-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 4.04
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Literature evidence available