P189S (p.Pro189Ser) variant of POGZ (Q7Z3K3)
P189S (p.Pro189Ser) in POGZ (Q7Z3K3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P189S (p.Pro189Ser) variant details
- p.Pro189Ser
- ExAC rs780487533
- gnomAD rs780487533
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.80
- PolyPhen-2 0.76
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available