R33S (p.Arg33Ser) variant of PAX8 (Paired box protein Pax-8)
R33S (p.Arg33Ser) in PAX8 (Paired box protein Pax-8) is a missense change. 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.
R33S (p.Arg33Ser) variant details
- p.Arg33Ser
- cosmic curated COSV99048
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.95
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available