E16* (p.Glu16Ter) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E16* (p.Glu16Ter) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E16* (p.Glu16Ter) variant details
- p.Glu16Ter
- cosmic curated COSV60189
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.864
- CADD 38.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available