G11E (p.Gly11Glu) variant of PAX8 (Paired box protein Pax-8)
G11E (p.Gly11Glu) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G11E (p.Gly11Glu) variant details
- p.Gly11Glu
- gnomAD rs1175043359
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.97
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- Structural context available