E42G (p.Glu42Gly) variant of UBQLN2 (Ubiquilin-2)
E42G (p.Glu42Gly) 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.
E42G (p.Glu42Gly) variant details
- p.Glu42Gly
- gnomAD X-56563998-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.27
- MetaLR 0.25
- MetaSVM -0.75
- CADD 26.90
- PolyPhen-2 0.66
- SIFT 0.02
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available