L40F (p.Leu40Phe) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
L40F (p.Leu40Phe) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- gnomAD 14-61697874-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 0.00047)
- Structural context available
- Literature evidence available