E3G (p.Glu3Gly) variant of UBQLN2 (Ubiquilin-2)
E3G (p.Glu3Gly) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD X-56563881-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.23
- MetaLR 0.15
- MetaSVM -0.72
- CADD 26.90
- PolyPhen-2 0.71
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available