Q43R (p.Gln43Arg) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
Q43R (p.Gln43Arg) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q43R (p.Gln43Arg) variant details
- p.Gln43Arg
- rs1210485987
- gnomAD 14-61697861-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 6.05
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available
- Literature evidence available