L40L (p.Leu40Leu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
L40L (p.Leu40Leu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L40L (p.Leu40Leu) variant details
- p.Leu40Leu
- gnomAD 14-61697874-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 6.72
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available
- Literature evidence available