I34V (p.Ile34Val) variant of PAX8 (Paired box protein Pax-8)
I34V (p.Ile34Val) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
I34V (p.Ile34Val) variant details
- p.Ile34Val
- ExAC rs760446471
- TOPMed rs760446471
- gnomAD rs760446471
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.86
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available