S14A (p.Ser14Ala) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S14A (p.Ser14Ala) 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.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- gnomAD 14-61697857-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.82
- Most common in the Middle Eastern population (allele frequency 0.00036)
- Structural context available
- Literature evidence available