L40* (p.Leu40Ter) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
L40* (p.Leu40Ter) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L40* (p.Leu40Ter) variant details
- p.Leu40Ter
- rs140402206
- gnomAD 14-61697889-CT-C
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 20.20
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Structural context available
- Literature evidence available