A47E (p.Ala47Glu) variant of UBQLN2 (Ubiquilin-2)
A47E (p.Ala47Glu) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A47E (p.Ala47Glu) variant details
- p.Ala47Glu
- gnomAD X-56564013-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.29
- MetaLR 0.14
- MetaSVM -0.83
- CADD 21.30
- PolyPhen-2 0.98
- SIFT 0.87
- Population evidence available
- Structural context available
- Literature evidence available