R97H (p.Arg97His) variant of PAX8 (Paired box protein Pax-8)
R97H (p.Arg97His) 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 0.77 / 1. The record also includes population frequency data and structural context.
R97H (p.Arg97His) variant details
- p.Arg97His
- rs777910954
- ExAC rs777910954
- TOPMed rs777910954
- gnomAD rs777910954
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.76
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available