E28K (p.Glu28Lys) variant of CRBN (Protein cereblon)
E28K (p.Glu28Lys) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- gnomAD rs1280166278
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.09
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 0.0037)
- Structural context available