L46L (p.Leu46Leu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
L46L (p.Leu46Leu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L46L (p.Leu46Leu) variant details
- p.Leu46Leu
- gnomAD 14-61720484-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 10.50
- Population evidence available
- Structural context available
- Literature evidence available