A19E (p.Ala19Glu) variant of UBQLN2 (Ubiquilin-2)
A19E (p.Ala19Glu) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD X-56563929-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.15
- MetaLR 0.09
- MetaSVM -1.05
- CADD 22.90
- PolyPhen-2 0.88
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available