E44E (p.Glu44Glu) variant of UBQLN2 (Ubiquilin-2)
E44E (p.Glu44Glu) in UBQLN2 (Ubiquilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E44E (p.Glu44Glu) variant details
- p.Glu44Glu
- gnomAD X-56564005-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 13.10
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available