G115D (p.Gly115Asp) variant of PAX8 (Paired box protein Pax-8)
G115D (p.Gly115Asp) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G115D (p.Gly115Asp) variant details
- p.Gly115Asp
- ESP rs201332404
- ExAC rs201332404
- TOPMed rs201332404
- gnomAD rs201332404
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.86
- CADD 25.30
- PolyPhen-2 0.83
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.0007)
- Structural context available