E42D (p.Glu42Asp) variant of UBQLN2 (Ubiquilin-2)
E42D (p.Glu42Asp) in UBQLN2 (Ubiquilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- gnomAD rs1184980400
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.14
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available