T223A (p.Thr223Ala) variant of POGZ (Q7Z3K3)
T223A (p.Thr223Ala) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T223A (p.Thr223Ala) variant details
- p.Thr223Ala
- TOPMed rs1306689632
- gnomAD rs1306689632
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available