Q133E (p.Gln133Glu) variant of POGZ (Q7Z3K3)
Q133E (p.Gln133Glu) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of POGZ-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
Q133E (p.Gln133Glu) variant details
- p.Gln133Glu
- rs2529542291
- ClinGen CA341982274
- ClinVar RCV004550652
- Uncertain significance
- POGZ-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- ESM-1b 1.00
- AlphaMissense 0.24
- ClinVar: Uncertain significance (POGZ-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available