D9E (p.Asp9Glu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
D9E (p.Asp9Glu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D9E (p.Asp9Glu) variant details
- p.Asp9Glu
- gnomAD 14-61695831-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.09
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 0.00047)
- Structural context available
- Literature evidence available