A7T (p.Ala7Thr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A7T (p.Ala7Thr) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- gnomAD rs1396364190
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.06
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available