R108Q (p.Arg108Gln) variant of PAX8 (Paired box protein Pax-8)
R108Q (p.Arg108Gln) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R108Q (p.Arg108Gln) variant details
- p.Arg108Gln
- gnomAD rs1333860789
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.96
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available