G56D (p.Gly56Asp) variant of PAX8 (Paired box protein Pax-8)
G56D (p.Gly56Asp) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G56D (p.Gly56Asp) variant details
- p.Gly56Asp
- gnomAD 2-113227139-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.12
- Population evidence available
- Structural context available
- Literature evidence available