Q43K (p.Gln43Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
Q43K (p.Gln43Lys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Q43K (p.Gln43Lys) variant details
- p.Gln43Lys
- gnomAD 14-61697860-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0985
- CADD 2.52
- Population evidence available
- Structural context available
- Literature evidence available