D80E (p.Asp80Glu) variant of POGZ (Q7Z3K3)
D80E (p.Asp80Glu) in POGZ (Q7Z3K3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
D80E (p.Asp80Glu) variant details
- p.Asp80Glu
- TOPMed rs930874795
- gnomAD rs930874795
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 23.50
- PolyPhen-2 0.39
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available