M8T (p.Met8Thr) variant of POGZ (Q7Z3K3)
M8T (p.Met8Thr) in POGZ (Q7Z3K3) 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 1.00 / 1. The record also includes structural context.
M8T (p.Met8Thr) variant details
- p.Met8Thr
- rs2529693225
- ClinGen CA341986183
- ClinVar RCV002287009
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available