H10Q (p.His10Gln) variant of PAX8 (Paired box protein Pax-8)
H10Q (p.His10Gln) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H10Q (p.His10Gln) variant details
- p.His10Gln
- TOPMed rs987005552
- gnomAD rs987005552
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.61
- CADD 13.00
- PolyPhen-2 0.98
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available