A113S (p.Ala113Ser) variant of PAX8 (Paired box protein Pax-8)
A113S (p.Ala113Ser) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A113S (p.Ala113Ser) variant details
- p.Ala113Ser
- ExAC rs766051649
- TOPMed rs766051649
- gnomAD rs766051649
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.52
- CADD 20.50
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available