E28Q (p.Glu28Gln) variant of PAX8 (Paired box protein Pax-8)
E28Q (p.Glu28Gln) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD rs1303492062
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.69
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available