A7S (p.Ala7Ser) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A7S (p.Ala7Ser) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 14-61695823-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.04
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available