F37L (p.Phe37Leu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
F37L (p.Phe37Leu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
F37L (p.Phe37Leu) variant details
- p.Phe37Leu
- gnomAD 14-61697884-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 19.60
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Literature evidence available