S59A (p.Ser59Ala) variant of PAX8 (Paired box protein Pax-8)
S59A (p.Ser59Ala) in PAX8 (Paired box protein Pax-8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S59A (p.Ser59Ala) variant details
- p.Ser59Ala
- gnomAD 2-113227128-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0877
- CADD 1.00
- Population evidence available
- Structural context available
- Literature evidence available