A25G (p.Ala25Gly) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A25G (p.Ala25Gly) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A25G (p.Ala25Gly) variant details
- p.Ala25Gly
- rs2044413174
- gnomAD 14-61720418-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available