R110Q (p.Arg110Gln) variant of PAX8 (Paired box protein Pax-8)
R110Q (p.Arg110Gln) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R110Q (p.Arg110Gln) variant details
- p.Arg110Gln
- cosmic curated COSV54510
- ESP rs376820853
- TOPMed rs376820853
- gnomAD rs376820853
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.80
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available