G6E (p.Gly6Glu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G6E (p.Gly6Glu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- gnomAD 14-61697909-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 8.70
- SIFT 0.18
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Literature evidence available