R30K (p.Arg30Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R30K (p.Arg30Lys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R30K (p.Arg30Lys) variant details
- p.Arg30Lys
- gnomAD 14-61697941-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 27.90
- Population evidence available
- Structural context available
- Literature evidence available