P189T (p.Pro189Thr) variant of POGZ (Q7Z3K3)
P189T (p.Pro189Thr) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P189T (p.Pro189Thr) variant details
- p.Pro189Thr
- ExAC rs780487533
- gnomAD rs780487533
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.39
- CADD 23.50
- PolyPhen-2 0.81
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available