Y38* (p.Tyr38Ter) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
Y38* (p.Tyr38Ter) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y38* (p.Tyr38Ter) variant details
- p.Tyr38Ter
- gnomAD 14-61720459-ATGAG
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available