A4V (p.Ala4Val) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A4V (p.Ala4Val) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 14-61695815-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.09
- CADD 22.10
- PolyPhen-2 0.05
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available