T69S (p.Thr69Ser) variant of POGZ (Q7Z3K3)
T69S (p.Thr69Ser) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T69S (p.Thr69Ser) variant details
- p.Thr69Ser
- TOPMed rs1660442287
- gnomAD rs1660442287
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 17.10
- PolyPhen-2 0.07
- SIFT 0.72
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available