E42* (p.Glu42Ter) variant of UBQLN2 (Ubiquilin-2)
E42* (p.Glu42Ter) in UBQLN2 (Ubiquilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- gnomAD X-56563997-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available