E14G (p.Glu14Gly) variant of POGZ (Q7Z3K3)
E14G (p.Glu14Gly) 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 0.99 / 1. The record also includes structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- rs2529693122
- ClinGen CA341986134
- ClinVar RCV002305887
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available