I34L (p.Ile34Leu) variant of PAX8 (Paired box protein Pax-8)
I34L (p.Ile34Leu) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
I34L (p.Ile34Leu) variant details
- p.Ile34Leu
- ExAC rs760446471
- TOPMed rs760446471
- gnomAD rs760446471
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.90
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available