E3D (p.Glu3Asp) variant of UBQLN2 (Ubiquilin-2)
E3D (p.Glu3Asp) 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.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- TOPMed rs1020896571
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.05
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 9.3e-05)
- Structural context available