G5D (p.Gly5Asp) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G5D (p.Gly5Asp) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- TOPMed rs1471152502
- gnomAD rs1471152502
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.07
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available