T199A (p.Thr199Ala) variant of POGZ (Q7Z3K3)
T199A (p.Thr199Ala) 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 0.24 / 1. The record also includes structural context.
T199A (p.Thr199Ala) variant details
- p.Thr199Ala
- rs1029784776
- ClinGen CA341978584
- ClinVar RCV002954226
- gnomAD rs1029784776
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.00
- MetaSVM -0.76
- PolyPhen-2 0.12
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available