D117E (p.Asp117Glu) variant of CRBN (Protein cereblon)
D117E (p.Asp117Glu) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D117E (p.Asp117Glu) variant details
- p.Asp117Glu
- ExAC rs763201952
- gnomAD rs763201952
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.41
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.1)
- Structural context available