T224A (p.Thr224Ala) variant of POGZ (Q7Z3K3)
T224A (p.Thr224Ala) 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 0.41 / 1. The record also includes population frequency data and structural context.
T224A (p.Thr224Ala) variant details
- p.Thr224Ala
- gnomAD rs965077071
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.60
- PolyPhen-2 0.19
- SIFT 0.53
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available