Q68E (p.Gln68Glu) variant of UBQLN2 (Ubiquilin-2)
Q68E (p.Gln68Glu) in UBQLN2 (Ubiquilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of UBQLN2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q68E (p.Gln68Glu) variant details
- p.Gln68Glu
- TOPMed rs1394576923
- gnomAD rs1394576923
- Uncertain significance
- UBQLN2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.05
- CADD 18.40
- ClinVar: Uncertain significance (UBQLN2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available