G93A (p.Gly93Ala) variant of PAX8 (Paired box protein Pax-8)
G93A (p.Gly93Ala) 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 0.56 / 1. The record also includes population frequency data and structural context.
G93A (p.Gly93Ala) variant details
- p.Gly93Ala
- rs1085307828
- ClinGen CA348302550
- ClinVar RCV000490149
- TOPMed rs1085307828
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.47
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available