H39Q (p.His39Gln) variant of PAX8 (Paired box protein Pax-8)
H39Q (p.His39Gln) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
H39Q (p.His39Gln) variant details
- p.His39Gln
- ExAC rs745371541
- TOPMed rs745371541
- gnomAD rs745371541
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.53
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available