I71T (p.Ile71Thr) variant of PAX8 (Paired box protein Pax-8)
I71T (p.Ile71Thr) 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.
I71T (p.Ile71Thr) variant details
- p.Ile71Thr
- gnomAD rs1340682275
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.97
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available