E44G (p.Glu44Gly) variant of UBQLN2 (Ubiquilin-2)
E44G (p.Glu44Gly) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- gnomAD X-56564004-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.54
- MetaLR 0.47
- MetaSVM -0.19
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.3e-05)
- Structural context available
- Literature evidence available