R7T (p.Arg7Thr) variant of PAX8 (Paired box protein Pax-8)
R7T (p.Arg7Thr) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R7T (p.Arg7Thr) variant details
- p.Arg7Thr
- rs979804694
- TOPMed rs979804694
- gnomAD rs979804694
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.58
- CADD 24.00
- PolyPhen-2 0.87
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available