E90V (p.Glu90Val) variant of PAX8 (Paired box protein Pax-8)
E90V (p.Glu90Val) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
E90V (p.Glu90Val) variant details
- p.Glu90Val
- TOPMed rs770096915
- gnomAD rs770096915
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.65
- CADD 24.70
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available