A19T (p.Ala19Thr) variant of PAX8 (Paired box protein Pax-8)
A19T (p.Ala19Thr) in PAX8 (Paired box protein Pax-8) is a missense change. Clinical records from ClinVar 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 0.64 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- NCI-TCGA TCGA novel
- TOPMed rs1691365431
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.56
- CADD 23.60
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available