G3D (p.Gly3Asp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G3D (p.Gly3Asp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G3D (p.Gly3Asp) variant details
- p.Gly3Asp
- 1000Genomes rs547805630
- ExAC rs547805630
- gnomAD rs547805630
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.10
- CADD 21.70
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)
- Structural context available