T70P (p.Thr70Pro) variant of POGZ (Q7Z3K3)
T70P (p.Thr70Pro) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T70P (p.Thr70Pro) variant details
- p.Thr70Pro
- gnomAD rs1314607982
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.40
- PolyPhen-2 0.28
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available