S59N (p.Ser59Asn) variant of PAX8 (Paired box protein Pax-8)
S59N (p.Ser59Asn) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
S59N (p.Ser59Asn) variant details
- p.Ser59Asn
- gnomAD rs1691354186
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.92
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available