R33H (p.Arg33His) variant of PAX8 (Paired box protein Pax-8)
R33H (p.Arg33His) 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 0.88 / 1. The record also includes population frequency data and structural context.
R33H (p.Arg33His) variant details
- p.Arg33His
- rs368109291
- cosmic curated COSV99639
- ESP rs368109291
- ExAC rs368109291
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.94
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available