L40W (p.Leu40Trp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
L40W (p.Leu40Trp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L40W (p.Leu40Trp) variant details
- p.Leu40Trp
- gnomAD 14-61697873-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 9.76
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available