P52S (p.Pro52Ser) variant of POGZ (Q7Z3K3)
P52S (p.Pro52Ser) in POGZ (Q7Z3K3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- 1000Genomes rs199870784
- ExAC rs199870784
- TOPMed rs199870784
- gnomAD rs199870784
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.18
- MetaSVM -0.74
- CADD 23.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available