E16K (p.Glu16Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E16K (p.Glu16Lys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs1391324896
- gnomAD 14-61697899-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 20.10
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Literature evidence available