Q43H (p.Gln43His) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
Q43H (p.Gln43His) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q43H (p.Gln43His) variant details
- p.Gln43His
- gnomAD 14-61697862-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 6.53
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Literature evidence available