G5S (p.Gly5Ser) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G5S (p.Gly5Ser) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- Ensembl rs2044106465
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.07
- CADD 20.90
- PolyPhen-2 0.03
- SIFT 0.27
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available