H3D (p.His3Asp) variant of PAX8 (Paired box protein Pax-8)
H3D (p.His3Asp) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
H3D (p.His3Asp) variant details
- p.His3Asp
- TOPMed rs1174472803
- gnomAD rs1174472803
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.54
- CADD 24.50
- PolyPhen-2 0.83
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available