T199S (p.Thr199Ser) variant of POGZ (Q7Z3K3)
T199S (p.Thr199Ser) in POGZ (Q7Z3K3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
T199S (p.Thr199Ser) variant details
- p.Thr199Ser
- gnomAD rs1029784776
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available