E28D (p.Glu28Asp) variant of CRBN (Protein cereblon)
E28D (p.Glu28Asp) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD rs1238628912
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.09
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available