S59R (p.Ser59Arg) variant of PAX8 (Paired box protein Pax-8)
S59R (p.Ser59Arg) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S59R (p.Ser59Arg) variant details
- p.Ser59Arg
- rs138235658
- gnomAD 2-113227126-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 0.95
- Population evidence available
- Structural context available
- Literature evidence available