E16Q (p.Glu16Gln) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E16Q (p.Glu16Gln) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- rs1391324896
- gnomAD 14-61697899-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 17.80
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00045)
- Structural context available
- Literature evidence available