E27K (p.Glu27Lys) variant of CRBN (Protein cereblon)
E27K (p.Glu27Lys) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- TOPMed rs961091349
- gnomAD rs961091349
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.06
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available