E42V (p.Glu42Val) variant of UBQLN2 (Ubiquilin-2)
E42V (p.Glu42Val) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E42V (p.Glu42Val) variant details
- p.Glu42Val
- gnomAD X-56563998-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.44
- MetaLR 0.42
- MetaSVM -0.17
- CADD 26.80
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available