E33A (p.Glu33Ala) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E33A (p.Glu33Ala) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E33A (p.Glu33Ala) variant details
- p.Glu33Ala
- gnomAD 14-61697948-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 23.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00045)
- Structural context available
- Literature evidence available