R33C (p.Arg33Cys) variant of PAX8 (Paired box protein Pax-8)
R33C (p.Arg33Cys) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- rs776315252
- ClinGen CA1840347
- ClinVar RCV001200130
- ExAC rs776315252
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.94
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available