Q40E (p.Gln40Glu) variant of PAX8 (Paired box protein Pax-8)
Q40E (p.Gln40Glu) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q40E (p.Gln40Glu) variant details
- p.Gln40Glu
- ExAC rs778281768
- TOPMed rs778281768
- gnomAD rs778281768
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.64
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available