A19D (p.Ala19Asp) variant of PAX8 (Paired box protein Pax-8)
A19D (p.Ala19Asp) 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.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- 1000Genomes rs2104507947
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.80
- CADD 25.60
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available