E6* (p.Glu6Ter) variant of UBQLN2 (Ubiquilin-2)
E6* (p.Glu6Ter) in UBQLN2 (Ubiquilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- gnomAD X-56563889-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available