A4T (p.Ala4Thr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A4T (p.Ala4Thr) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- cosmic curated COSV60191
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.17
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.25
- Population evidence available
- Structural context available