E106K (p.Glu106Lys) variant of CRBN (Protein cereblon)
E106K (p.Glu106Lys) in CRBN (Protein cereblon) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E106K (p.Glu106Lys) variant details
- p.Glu106Lys
- rs758183266
- NCI-TCGA Cosmic COSV5163
- cosmic curated COSV51639
- ExAC rs758183266
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.23
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.0018)
- Structural context available