E50D (p.Glu50Asp) variant of UBQLN2 (Ubiquilin-2)
E50D (p.Glu50Asp) in UBQLN2 (Ubiquilin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- TOPMed rs1156273861
- gnomAD rs1156273861
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.21
- CADD 15.00
- PolyPhen-2 0.02
- SIFT 0.55
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available