R30E (p.Arg30Glu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R30E (p.Arg30Glu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating 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.
R30E (p.Arg30Glu) variant details
- p.Arg30Glu
- gnomAD 14-61697939-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available