E114G (p.Glu114Gly) variant of PAX8 (Paired box protein Pax-8)
E114G (p.Glu114Gly) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
E114G (p.Glu114Gly) variant details
- p.Glu114Gly
- TOPMed rs1691145687
- gnomAD rs1691145687
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.93
- CADD 29.30
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available