G3S (p.Gly3Ser) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G3S (p.Gly3Ser) 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.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- ExAC rs763159088
- TOPMed rs763159088
- gnomAD rs763159088
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.06
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available