E67D (p.Glu67Asp) variant of PAX8 (Paired box protein Pax-8)
E67D (p.Glu67Asp) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E67D (p.Glu67Asp) variant details
- p.Glu67Asp
- gnomAD 2-113227147-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.09
- Population evidence available
- Structural context available
- Literature evidence available