Q130E (p.Gln130Glu) variant of POGZ (Q7Z3K3)
Q130E (p.Gln130Glu) 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 0.48 / 1. The record also includes population frequency data and structural context.
Q130E (p.Gln130Glu) variant details
- p.Gln130Glu
- rs2529542454
- ClinGen CA341982330
- ClinVar RCV002467103
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 21.10
- PolyPhen-2 0.07
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available