P52A (p.Pro52Ala) variant of POGZ (Q7Z3K3)
P52A (p.Pro52Ala) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- rs199870784
- ClinGen CA341985868
- ClinVar RCV001754308
- 1000Genomes rs199870784
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.18
- MetaSVM -0.74
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available