S28C (p.Ser28Cys) variant of POGZ (Q7Z3K3)
S28C (p.Ser28Cys) 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 0.49 / 1. The record also includes population frequency data and structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- gnomAD rs1439970488
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.36
- ESM-1b 0.62
- AlphaMissense 0.62
- MetaLR 0.01
- MetaSVM -0.58
- CADD 26.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available