A4S (p.Ala4Ser) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A4S (p.Ala4Ser) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 14-61695814-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.14
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available