R17L (p.Arg17Leu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R17L (p.Arg17Leu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- rs559818454
- gnomAD 14-61697867-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0972
- CADD 2.34
- Population evidence available
- Structural context available
- Literature evidence available