Q32R (p.Gln32Arg) variant of PAX8 (Paired box protein Pax-8)
Q32R (p.Gln32Arg) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Q32R (p.Gln32Arg) variant details
- p.Gln32Arg
- TOPMed rs1028607843
- gnomAD rs1028607843
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.68
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available