E45D (p.Glu45Asp) variant of UBQLN2 (Ubiquilin-2)
E45D (p.Glu45Asp) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- gnomAD X-56564008-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -1.03
- CADD 15.20
- PolyPhen-2 0.02
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available