L40G (p.Leu40Gly) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
L40G (p.Leu40Gly) in HIF1A (Hypoxia-inducible factor 1-alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L40G (p.Leu40Gly) variant details
- p.Leu40Gly
- gnomAD 14-61697928-ATT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 23.10
- Most common in the REMAINING population (allele frequency 0.00045)
- Structural context available
- Literature evidence available