A113T (p.Ala113Thr) variant of PAX8 (Paired box protein Pax-8)
A113T (p.Ala113Thr) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A113T (p.Ala113Thr) variant details
- p.Ala113Thr
- ExAC rs766051649
- TOPMed rs766051649
- gnomAD rs766051649
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.64
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available