R23L (p.Arg23Leu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R23L (p.Arg23Leu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- gnomAD 14-61720414-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.53
- MetaLR 0.51
- MetaSVM 0.16
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available