T101I (p.Thr101Ile) variant of PAX8 (Paired box protein Pax-8)
T101I (p.Thr101Ile) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
T101I (p.Thr101Ile) variant details
- p.Thr101Ile
- ExAC rs752572959
- TOPMed rs752572959
- gnomAD rs752572959
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.88
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available