R17Q (p.Arg17Gln) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R17Q (p.Arg17Gln) 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.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- rs559818454
- gnomAD 14-61697867-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 2.97
- Population evidence available
- Structural context available
- Literature evidence available