S14G (p.Ser14Gly) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S14G (p.Ser14Gly) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S14G (p.Ser14Gly) variant details
- p.Ser14Gly
- gnomAD 14-61697854-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 9.47
- Population evidence available
- Structural context available
- Literature evidence available