V125I (p.Val125Ile) variant of POGZ (Q7Z3K3)
V125I (p.Val125Ile) 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 0.27 / 1. The record also includes structural context.
V125I (p.Val125Ile) variant details
- p.Val125Ile
- rs2529542692
- ClinGen CA341982412
- ClinVar RCV004552442
- Uncertain significance
- POGZ-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (POGZ-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available