T70I (p.Thr70Ile) variant of POGZ (Q7Z3K3)
T70I (p.Thr70Ile) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T70I (p.Thr70Ile) variant details
- p.Thr70Ile
- TOPMed rs900840511
- gnomAD rs900840511
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 20.30
- PolyPhen-2 0.11
- SIFT 0.31
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available