E33K (p.Glu33Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E33K (p.Glu33Lys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- gnomAD 14-61697935-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 21.70
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available