p.Gly5 Ala7del variant of HIF1A (Hypoxia-inducible factor 1-alpha)
p.Gly5 Ala7del in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly5 Ala7del variant details
- rs754951963
- gnomAD 14-61695810-GGGCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 21.30
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Structural context available
- Literature evidence available