H12Q (p.His12Gln) variant of CRBN (Protein cereblon)
H12Q (p.His12Gln) in CRBN (Protein cereblon) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H12Q (p.His12Gln) variant details
- p.His12Gln
- TOPMed rs1205324698
- gnomAD rs1205324698
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available