I92T (p.Ile92Thr) variant of PAX8 (Paired box protein Pax-8)
I92T (p.Ile92Thr) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
I92T (p.Ile92Thr) variant details
- p.Ile92Thr
- gnomAD rs1246188811
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.96
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available