E16E (p.Glu16Glu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E16E (p.Glu16Glu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E16E (p.Glu16Glu) variant details
- p.Glu16Glu
- gnomAD 14-61697901-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.41
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available