E67* (p.Glu67Ter) variant of PAX8 (Paired box protein Pax-8)
E67* (p.Glu67Ter) in PAX8 (Paired box protein Pax-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E67* (p.Glu67Ter) variant details
- p.Glu67Ter
- gnomAD 2-113227149-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 10.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available