A4D (p.Ala4Asp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A4D (p.Ala4Asp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- TOPMed rs1253716282
- gnomAD rs1253716282
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.14
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available