E16A (p.Glu16Ala) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E16A (p.Glu16Ala) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E16A (p.Glu16Ala) variant details
- p.Glu16Ala
- ExAC rs778648481
- gnomAD rs778648481
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.49
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available