S14F (p.Ser14Phe) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S14F (p.Ser14Phe) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S14F (p.Ser14Phe) variant details
- p.Ser14Phe
- rs1289925593
- gnomAD 14-61697858-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.38
- Population evidence available
- Structural context available
- Literature evidence available