T70S (p.Thr70Ser) variant of POGZ (Q7Z3K3)
T70S (p.Thr70Ser) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T70S (p.Thr70Ser) variant details
- p.Thr70Ser
- TOPMed rs900840511
- gnomAD rs900840511
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available