D117A (p.Asp117Ala) variant of CRBN (Protein cereblon)
D117A (p.Asp117Ala) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D117A (p.Asp117Ala) variant details
- p.Asp117Ala
- TOPMed rs1483237189
- gnomAD rs1483237189
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.58
- CADD 28.90
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available