E50E (p.Glu50Glu) variant of UBQLN2 (Ubiquilin-2)
E50E (p.Glu50Glu) in UBQLN2 (Ubiquilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E50E (p.Glu50Glu) variant details
- p.Glu50Glu
- rs1156273861
- gnomAD X-56564023-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 11.00
- Most common in the Middle Eastern population (allele frequency 0.00098)
- Structural context available
- Literature evidence available